Exome sequencing data reanalysis of 200 hypertrophic cardiomyopathy patients: the HYPERGEN French cohort 5 years after the initial analysis
PMID: 39554508
Gene: TPM1
HGNC ID: 12010
Additional Information: The authors looked at exome data from 200 patients with HCM. They found no TPM1 variants in the HYPERGEN cohort.
UMU-36-513-s001.zip (35M)GUID: 06D923F1-8EE7-4CA8-96C3-FB1A004ACCF5
Variant not found in the supplemental data even though Mastermind says it is in S002.
HUMU-36-513-s001.zip (35M)GUID: 06D923F1-8EE7-4CA8-96C3-FB1A004ACCF5
Variant not found in the supplemental data even though Mastermind says it is in S002.
c.172C > T
This variant is mentioned only in reference to a previous publication (PMID: 30689204)
Table 1
Ser112Arg is mentioned in this table in reference to previous publications
The institutional review board of the University of Michigan (IRBMED) approved this retrospective study. Patients who were referred to the Michigan Medicine Pediatric Genetics clinic for any reason and who underwent CES as part of their diagnostic workup were consecutively included in this study. Clinical evaluations of patients were performed in the comprehensive Pediatrics Genetics Clinic, and included detailed evaluation of each individual and construction of a pedigree. Patients were clinically assessed by a physician (medical geneticist) who reviewed prior history and medical workup, performed a patient interview and physical exam, and ordered diagnostic testing. Patients selected for this cohort included all consecutive patients in whom CES was deemed clinically indicated by the assessing physician who presented for evaluation during from October 1, 2012 through April 30, 2018. Based on physician clinical evaluation and reviews of prior workup and diagnostic testing, a binary yes/no phenotype dataset was curated for all patients across all body systems and other developmental / neurodevelopmental categories. This phenotyping was performed by the Medical Geneticist and then entered into the phenotype database. This was done upon the patient’s initial presentation to clinic before results from genetic testing had returned. The database was created in Excel format, and data were entered by genetic counsellors after the patient had been evaluated in clinic. The database was subsequently updated with results of genetic testing when available. The clinical system phenotypes assessed for abnormalities were: ear/nose/throat (Oto), ophthalmologic, neuromuscular, cardiac, pulmonary, gastrointestinal, renal, skeletal/connective tissue/vascular, skin/hair/teeth, endocrine, hematologic/immunologic (hem/imm), disorders of sexual development (DSD)/ambiguous genitalia, metabolic/inborn errors of metabolism (IEM). A number of other non-body system categories were also assessed in a similar binary way: multiple congenital anomalies (MCA), dysmorphic features, cancer, developmental delay, autism spectrum disorder or autism-like features, and any other behavioral phenotype not otherwise specified. In addition to these binary-curated features, all patients had a descriptive phenotypic summary, as well as demographic information (age, sex) and collation of any prior genetic/molecular testing including karyotype, CMA, or other single gene or panel based molecular testing. Each clinical phenotype was assigned its corresponding Human Phenotype Ontology (HPO) term (Supplementary Table 2). All patients included in this study underwent CES as part of their clinical workup, based on physician clinical decision making. All patients were also required to have a separate genetic counselling appointment for pre-test counselling performed by a certified genetic counselor. Clinical exome sequencing was performed in a ‘send-out’ manner, with 424 to GeneDx, 96 to Ambry, 2 to UCLA, and one to Fulgent. Clinical CES results were reported using the ACMG classification scheme; however, for research purposes, we modified reporting for analysis here by collapsing pathogenic and likely pathogenic variants into the same category (pathogenic variants). We have also included genes of uncertain significance (GUS)—i.e. genes whose biologic function is not known or disease association has not been established—as these may be informative for future gene discovery research. Clinical phenotype data were analyzed by comparing summative analysis of the binary phenotypes. Analysis of variance (ANOVA) was used to compare differences between groups, with p-value < 0.05 considered significant.
Patient 2 in the supplemental info has the same genotype, phenotype, and gender as from PMID: 30689204, so it seems likely that this is the same individual.
Exon 2 c.172C>T r.(?) p.(Arg58*) Pathogenic (dominant) — 1 ACO2_000050 5
This variant is mentioned only in reference to a previous publication (PMID: 34056600)
Exon 3 c.336C>G r.(?) p.(Ser112Arg) Pathogenic (recessive) Aconitase 10 ACO2_000001 3,19,20
This variant is mentioned only in reference to previous publications (PMID: 22405087, 26992325, 28463998)
A p.Ser112Arg missense mutation was first identified in 2 families with infantile cerebellar-retinal degeneration.28 Affected individuals exhibited developmental delay including severe psychomotor retardation, with an age at onset between 2 and 6 months. Brain MRI revealed cerebellar degeneration and white matter abnormalities (dysmyelination). Optic atrophy and retinal degeneration were readily identifiable in the setting of progressively severe visual impairment. Mitochondrial aconitase enzymatic activity was significantly reduced in lymphoblasts.
This variant is mentioned only in reference to a previous report.
athogenic variants in mitochondrial aconitase were originally described in two families of Middle Eastern descent. The resulting defects in ACO2 activity were associated with a relatively severe clinical course that included optic and cerebellar atrophy associated with hearing loss and severe to profound developmental delay (8). Subsequent to that original report (preceding the results on our patient), Metodiev et al. described an additional five subjects in three families (two consanguineous) from France and Algeria with other ACO2 pathogenic variants (9). In that cohort, although the core symptoms of ataxia, optic nerve involvement and developmental delay were again noted, the severity of the associated symptoms varied widely. Our report therefore serves to further expand the phenotype associated with ACO2 deficiency in a similar manner – our patient falls outside of the ethnic groups so far described, and did not have evidence of cerebellar atrophy on MRI or of significant optic nerve involvement at the time of evaluation. However, the aconitase activity is within the range of previously reported patient’s with infantile cerebellar-retinal degeneration syndrome, and the ACO2 protein activity is similar to at least one other patient (Figure 5).
This variant is only mentioned in reference to a previous report.
F1-P1/P2 and F2-P1/P2/P3 have been previously published [2]
Previously published cases from PMID: 22405087
S2 Table: Information on 417 mutations associated with the severe form of lethal, recessive Mendelian diseases. (XLSX)pgen.1006915.s002.xlsx (61K)GUID: 68172932-AFF0-4FB9-A3EA-3B8A4268D8EC
This variant was said to be in table S2 per Mastermind, but it is actually T364M.
S2 Table: Information on 417 mutations associated with the severe form of lethal, recessive Mendelian diseases. (XLSX)pgen.1006915.s002.xlsx (61K)GUID: 68172932-AFF0-4FB9-A3EA-3B8A4268D8EC
This variant was said to be in table S2 per Mastermind, but it is actually T364M.
Table S1. List of all variants in ACO2 and associated clinical phenotypes, population frequency, and in silico predictions for pathogenicity. Click here for additional data file. (37.8KB, xlsx)
This variant was only mentioned in reference to a previous publication
Matching heterogeneous cohorts by projected principal components reveals two novel Alzheimer's disease‐associated genes in the Hispanic population
PMID: 41755704
Gene: GDAP2
HGNC: 18010
AdditionalInfo: No evidence found. Genome-wide association study of Alzheimer's disease in Hispanic participants. A rare variant (rs935208076) approximately 50 kb from GDAP2 reached genome-wide significance in one of two meta-analyses (All of Us participants matched by genetic principal components, age and sex; Table 2), and was not confirmed in other independent cohorts (Results 3.5). No SCAR27 cases or GDAP2 variants in ataxia patients reported. Authors propose GDAP2 as a novel Alzheimer's disease-associated gene.
Inherited traits affecting platelet function
PMID: 18180086
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
NoEvidence: This article gives background information on GT; there is no mention of GT probands with variants in ITGA2B and/or ITGB3
Recombinant factor VIIa enhances deposition of platelets with congenital or acquired αIIbβ3 deficiency to endothelial cell matrix and collagen under conditions of flow via tissue factor–independent thrombin generation
PMID: 12411291
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
NoEvidence: This article does not mention GT probands with variants in ITGA2B and/or ITGB3 therefore there is no evdience; however, there may be potenetial experimental assay information
Interactionofhumanplateletswithlamininandidentificationofthe67kDalamininreceptoronplatelets
PMID: 1826081
Gene: ITGA2B and ITGB3 (we are noting these gene names even though there is no evidence for GT in this article, because we are curating for these genes-- CThaxton advised it would be a good idea to always note down Genes and HGNC)
HGNC: 6138 and 6156
NoEvidence: This article does not mention Glanzmann thrombasthenia patients/probands with variants in ITGA2B and/or ITGB3; therefore, there is no evidence to report. The studies performed in this article were undertaken to characterize the interaction of platelets with laminin.
FLOW CYTOMETRIC ANALYSIS OF PLATELET SURFACE GLYCOPROTEINS IN THE DIAGNOSIS OF BERNARD-SOULIER SYNDROME
PMID: 9021812
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
NoEvidence: This article does not mention Glanzmann thrombasthenia patients/probands with variants in ITGA2B and/or ITGB3; therefore, there is no evidence to report
VISUALIZATION OF PLATELET GLYCOPROTEINS Ib AND IIIa BY IMMUNOENZYMATIC STAIN USING AVIDIN-BIOTIN PEROXIDASE COMPLE
PMID: 1788826
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
NoEvidence: This article does not mention Glanzmann thrombasthenia probands with variants in ITGA2B and/or ITGB3; therefore, there is no evidence
The GPIIb/IIIa (integrin αIIbβ3) odyssey: a technology-driven saga of a receptor with twists, turns, and even a bend
PMID: 18840725
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
NoEvidence: This article is a review discussing the integrin αIIbβ3, there is no mention of probands with variants in ITGA2B and/or ITGB3
Platelets contribute to amyloid-β aggregation in cerebral vessels through integrin αIIbβ3–induced outside-in signaling and clusterin release
PMID: 27221710
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
NoEvidence: This article does not mention GT probands with variants in ITGA2B or ITGB3
Intron 5 c.684+1G>T r.spl? p.? Likely pathogenic (dominant) Aconitase 1 ACO2_000120 24
This variant is mentioned in reference to a previous publication that is not associated with disease.
p.Q310X [37]
This paper references a pt from PMID: 12865757 which can no longer be accessed. Links/DOI say they're no longer found.
p.E274X [37]
This paper references a pt from PMID: 12865757 which can no longer be accessed. Links/DOI say they're no longer found.
Comment on “report of 5 novel mutations of the α-L-iduronidase gene and comparison of Korean mutations in relation with those of Japan or China in patients with mucopolysaccharidosis I”
PMID: 30286738
Gene: IDUA
Disease: MPS1
Inheritance: Autosomal Dominant
In utero adenine base editing corrects multi-organ pathology in a lethal lysosomal storage disease
PMID: 34257302
Gene: IDUA
Disease: MPS1
Inheritance: Autosomal Recessive
To assess the potential utility of these genotype–phenotype relationships, the associations suggested were applied to test cohort derived from a previously published cohort of MPS I patients (Beesley et al., 2001). This study described the variants identified in a cohort of 85 families with MPS I, and identified nine common variants. Phenotypic information was available for a subset of individuals in whom neither or only one variant was a common variant. Up to date genotypes and phenotypic classification was obtained for 31 such individuals in whom both IDUA variants were identified (Clare Beesley, personal communication), and this was used as the test cohort (Supp. Table S5).
This variant can be found in supp table s5, mentioned from a previous publication (Beesley et al., 2001).
Platelet collagen receptor Glycoprotein VI-dimer recognizesfibrinogen and fibrin through their D-domains, contributing toplatelet adhesion and activation during thrombus formation
PMID: 29210180
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
NoEvidence: Article does not mention GT probands with specific variants in ITGA2B and/or ITGB3
Platelet Glycoprotein IIb-III, (ffIIbp3 Integrin) Confers Fibrinogen- and Ac tiva tion-Dependen t Aggregation on Heterologous Cells
PMID: 2070074
Gene: N/A
HGNC: N/A
NoEvidence: This article does not mention Glanzmann thrombasthenia probands with variants in ITGA2B and/or ITGB3; therefore, there is no evidence
Note: Although there is no evidence regarding GT probands and variants-- there is some experimental assay evidence, where methods for the experiment may be useful
Inherited platelet disorders and oral health
PMID: 22583386
Genes: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
NoEvidence: This article does not mention probands or variants with GT however this has a general summary of Glanzmann thrombasthenia
The Level of Laboratory Testing Requiredfor Diagnosis or Exclusion of a PlateletFunction Disorder Using Platelet Aggregationand Secretion Assays
PMID: 19408197
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
NoEvidence: This article provides background information on Glanzmann thrombasthenia; however, does not mention probands or variants in ITGA2B and ITGB3
Thrombin generation assays: accruing clinical relevance.
PMID: 15257016
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
NoEvidence: This article does not mention GT patients with variants in ITGA2B and/or ITGB3; however, this may be useful for experimental assay purposes
Platelet Fibrinogen and Vitronectin in Glanzmann Thrombasthenia: Evidence Consistent With Specific Roles for Glycoprotein IIb/IIIa and a,P3 Integrins in Platelet Protein Trafficking
PMID: 1726706
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
NoEvidence: This article does not mention Glanzmann thrombasthenia patients/probands with variants in ITGA2B and/or ITGB3; therefore, there is no evidence to report
ITGA2B and ITGB3 gene mutations associated withGlanzmann thrombasthenia
PMID: 29125375
Gene: ITGA2B and ITBG3
HGNC: 6138 and 6156
NoEvidence This article gives a general overview of Glanzmann thrombasthenia, it does not discuss a proband or variants within probands.
Platelet-derived Microparticle Formation Involves Glycoprotein IIb-IIIa
PMID: 8325838
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
NoEvidence: This article does not mention Glanzmann thrombasthenia probands with variants in ITGA2B and ITGB3
Fluorinated low-viscosity copolymer with enhanced release property for roll-to-plate UV nanoimprint lithography
PMID: 31480035
Gene: F8
NoEvidence: No mention of blood disorders, Hemophilia or F8 here. Search engine might have seen EP-F8, which is a compound oxirane-- not the F8 gene.
PMID: 30160169
Gene: F8
HGNC: 3546
NoEvidence: This article does not mention probands with variants in Hemophilia A
Glucose hypometabolism in the visual cortex proportional to disease severity in patients with essential blepharospasm.
PMID: 31487599
Gene: F8
NoEvidence: No mention of blood disorders, F8 or Hemophilia A in this article.
Predictive Value of Slow and Fast EEG Oscillations for Methylphenidate Response in ADHD
PMID: 31304784
Gene: F8
NoEvidence: This article is not about Hemophilia A, blood disorders, or F8. This article is centered around ADHD.
Q310X severe
This paper uses in silico predictors to evaluate variants. Prediction is severe for this variant.
I270Ssevere
This paper uses in silico predictors to evaluate variants. Prediction is severe for this variant.
E274X severe
This paper uses in silico predictors to evaluate variants. Prediction is severe for this variant.
Phenotype prediction for mucopolysaccharidosis type I by in silico analysis
PMID: 28676128
Gene: IDUA
Disease: MPS1
Inheritance: Autosomal recessive
Differences in MPS I and MPS II Disease Manifestations
PMID: 34360653
Gene: IDUA
Disease: MPS1
Inheritance: Autosomal recessive
Safety of a pasteurized plasma‐derived Factor VIII and von Willebrand factor concentrate: analysis of 33 years of pharmacovigilance data
PMID: 28691218
Gene: VWF
HGNCID: 12726
Plasma levels of plasminogen activator inhibitor‐1 and bleeding phenotype in patients with von Willebrand disease
PMID: 28306198
Gene: VWF
HGNCID: 12726
Potential misdiagnosis of von Willebrand disease and haemophilia caused by ineffective mixing of thawed plasma
PMID: 28750474
Gene: VWF
HGNCID: 12726
Development of a novel flow cytometric immunobead array to quantify VWF: Ag and VWF: GPIbR and its application in acute myocardial infarction
PMID: 28523822
Gene: VWF
HGNCID: 12726
Occult cancer detection in patients with hemostatic disorder and venous thromboembolism
PMID: 28587726
Gene: VWF
HGNCID: 12726
Recombinant von Willebrand factor for severe gastrointestinal bleeding unresponsive to other treatments in a patient with type 2A von Willebrand disease: a case report
PMID: 28379876
Gene: VWF
HGNCID: 12726
Increase of von Willebrand factor with aging in type 1 von Willebrand disease: fact or fiction?
PMID: 28751564
Gene: VWF
HGNCID: 12726
Ebstein’s Anomaly
PMID: 24502034
Gene: MYH7
HGNC: 7577
General overview of Ebstein's Anomaly
The nature of respiratory muscle weakness in patients with late-onset Pompe disease
PMID: 31327549
Gene: GAA
Disease: Pompe Disease
Inheritance: Autosomal Recessive
How we treat the platelet glycoprotein defects; Glanzmann thrombasthenia and Bernard Soulier syndrome in children and adults
PMID: 30117143
Gene: ITGA2B and ITGB3 (Article mentions these genes)
HGNC: 6138 and 6156
NoEvidence: No mention of probands or variants in this article
Involvement of Platelet Glycoprotein IIb-IIIa (aIIb-P3 Integrin) in Thrombin-induced Synthesis of Phosphatidylinositol 3’,4’- Bisphosphate
PMID: 1660876
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
NoEvidence: This article does not mention Glanzmann thrombasthenia probands with variants in ITGA2B and/or ITGB3; therefore, there is no evidence
Glanzmann’s thrombasthenia: updated
PMID: 12487785
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
NoEvidence: This article is a review on Glanzmann thrombasthenia. There is no mention of GT patients with variants in ITGA2B and/or ITGB3
Bold
β3-integrin–deficient mice are a model for Glanzmann thrombasthenia showing placental defects and reduced survival
PMID: 9916135
Gene: ITGA2B and/or ITGB3
NoEvidence: This article does not mention GT patients with variants in ITGA2B and/or ITBG3; therefore there is no evidence. Researchers in this study generated a strain of B3 null mice, these mice will allow analysis of other suggested functions of B3 integrins.
Recombinant factor VIIa restores aggregation of αIIbβ3-deficient platelets via tissue factor–independent fibrin generation
PMID: 14592825
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
NoEvidence: This article does not mention GT patients with variants in ITGA2B and/or ITGB3; therefore, there is no evidence
In this particular study, the effect of rFVIIa on the aggregation of αIIbβ3-deficient platelets was investigated in a system consisting of isolated platelets and purified coagulation factors.
Involvement of GPIIb-IIIa on Human Platelets in Phosphotyrosine-Specific Dephosphorylation
PMID: 7687438
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
NoEvidence: This article does not mention Glanzmann thrombasthenia patients with variants in ITGA2B and ITGB3. Rather, This article reports another aspect of relationship between GPIIIb -IIIa and protein tyrosine phosphorylation, that is, the involvement of GPIIb-IIIa in dephosphorylation of certain tyrosine phosphorylated proteins
Hereditary Disorders of Platelet Function
PMID: 21043747
Gene: N/A
HGNC: N/A
NoEvidence: This article does not mention Glanzmann thrombasthenia patients with variants in ITGA2B and/or ITGB3; therefore, there is no evidence to report. This article gives a general overview of bleeding disorders including GT, and variants that have been reported in previous papers.
Rapid and Simple Platelet Function Assay to Assess Glycoprotein IIb/IIIa Receptor Blockade
PMID: 9054743
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
NoEvidence: This article does not mention Glanzmann thrombasthenia patients/probands with variants in ITGA2B and/or ITGB3; therefore, there is no evidence to report
Inherited platelet disorders: Management of the bleeding risk Thrombopathies / Hereditary Thrombocytopenia : Management of a Hemorrhagic Risk
PMID: 30077511
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
NoEvidence: This article does not mention probands or variants within ITGA2B and ITGB3
Theoretical investigation of the structure, detonation properties, and stability of bicyclo[3.2.1]octane derivatives
PMID: 31359151
Gene: F8
No Evidence: This article does not mention F8 or Hemophilia
Liver transplantation is a plausible, effective and safe procedure in patients with hemophilia. Clinical case
PMID: 31344177
Gene: F8
No Evidence: No variant evidence given in this article; however, patient with Hemophila A is described here.
Therapeutic potential of spheroids of stem cells from human exfoliated deciduous teeth for chronic liver fibrosis and hemophilia A
PMID: 31552493
Gene: F8
No Evidence: No mention of variants or probands in this article.
Phase 1, single‐dose escalating study of marzeptacog alfa (activated), a recombinant factor VIIa variant, in patients with severe hemophilia
PMID: 30151972
Gene: F8
HGNC: 3546
NoEvidence: This article does not mention specific case reports with variants
A short term anatomical and visual outcomes of large idiopathic macular holes surgery following inverted internal limiting membrane fl ap technique
PMID: 31523064
Gene: F8
NoEvidence: This article does not mention Hemophilia A, or F8. No mention of blood disorders in general.
Metabolic Cardiomyopathies and Cardiac Defects in Inherited Disorders of Carbohydrate Metabolism: A Systematic Review
PMID: 37239976
Gene: IDUA
Disease: MPS1
Inheritance: Autosomal recessive
Biochemical Characteristics of iPSC-Derived Dopaminergic Neurons from N370S GBA Variant Carriers with and without Parkinson’s Disease
PMID: 36901867
Gene: IDUA
Disease: MPS1
Inheritance: Autosomal recessive
p.Q310X
This variant is mentioned in the text as not having been found in the Han Chinese.
Case report: a rare case of Hunter syndrome (type II mucopolysaccharidosis) in a girl
PMID: 31046699
Gene: IDUA
Disease: MPS1
Inheritance: Autosomal recessive
Pharmacokinetics, efficacy, and safety of a plasma-derived VWF/FVIII concentrate (VONCENTO) for on-demand and prophylactic treatment in patients with von Willebrand disease (SWIFT-VWD study)
PMID: 27203734
Gene: VWF
HGNCID: 12726
Long-term impact of joint bleeds in von Willebrand disease: a nested case-control study
PMID: 28572165
Gene: VWF
HGNCID: 12726
Feasibility of the Von Willebrand disease PREVENT tria
PMID: 28577390
Gene: VWF
HGNCID: 12726
Screening of female family members of von Willebrand disease patients: utility of a modified screening tool in a high‐risk population
PMID: 28181360
Gene: VWF
HGNCID: 12726
Life-threatening subdural hematoma after aortic valve replacement in a patient with Heyde syndrome: a case report
PMID: 28789675
Gene: VWF
HGNCID: 12726
von Willebrand factor disruption and continuous-flow circulatory devices
PMID: 28756118
Gene: VWF
HGNCID: 12726
A novel VWF variant associated with type 2 von Willebrand disease in German Wirehaired Pointers and German Shorthaired Pointers
PMID: 28696025
Gene: VWF
HGNCID: 12726
Application of a strain rate gradient microfluidic device to von Willebrand's disease screening
PMID: 28660968
Gene: VWF
HGNCID: 12726
The Association of Aging With Von Willebrand Factor Levels and Bleeding Risk in Type 1 Von Willebrand Disease
PMID: 28874064
Gene: VWF
HGNCID: 12726
Management of pregnancy and emergency caesarean delivery in a patient with type IIB von Willebrand disease and severe preeclampsia: A case report and literature review
PMID: 29997693
Gene: VWF
HGNCID: 12726
Monitoring Therapy during Treatment of von Willebrand Disease
PMID: 27472426
Gene: VWF
HGNCID: 12726
Diabetes mellitus activates fetal gene program and intensifies cardiac remodeling and oxidative stress in aged spontaneously hypertensive rats
PMID: 24134628
Gene: MYH7
HGNC: 7577
Rescue of heart lipoprotein lipase-knockout mice confirms a role for triglyceride in optimal heart metabolism and function
PMID: 24085031
Gene: MYH7
HGNC: 7577
"Defective energy intake and not the reduced uptake of fat-soluble vitamins or cholesterol is responsible for cardiac dysfunction in hLPL0 mice. In addition, our studies suggest that adaptations in cardiac metabolism contribute to the beneficial effects of exercise on the myocardium of patients with heart failure"
Unique Transcriptional Profile of Sustained Ligand-Activated Preconditioning in Pre- and Post-Ischemic Myocardium
PMID: 23991079
Gene: MYH7
HGNC: 7577
"we here applied un-biased transcriptome-wide interrogation to identify molecular changes associated with novel SLP."
Nonsense Mutations in BAG3 are Associated With Early-Onset Dilated Cardiomyopathy in French Canadians
PMID: 25448463
Gene: MYH7
HGNC: 7577
Bright tongue sign in patients with late-onset Pompe disease
PMID: 31256280
Gene: GAA
Disease: Pompe Disease
Inheritance: Autosomal Recessive
Different biochemical expression pattern of platelet surface glycoproteins suggests molecular diversity of Glanzmann's thrombasthenia in Iran.
PMID: 23912132
Genes: ITGA2B and ITGB3
HGNC: 6138 and 6156
NoEvidence: This article discusses GT; however no probands with variants in ITGA2B and ITGB3 are discussed.
Note: Annotated on the PubMed Abstract because the journal this article is in, Blood Coagulation and Fibrinolysis does not work properly.
Integrins on Rat Osteoclasts: Characterization of Two Monoclonal Antibodies (F4 and F11) to Rat p3
PMID: 1585837
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
NoEvidence: This article does not mention Glanzmann thrombasthenia probands with variants in ITGA2B and/or ITGB3; therefore, there is no evidence
A Point Mutation Leads to an Unpaired Cysteine Residue and aMolecular Weight Polymorphism of a Functional Plateletp3 Integrin Subuni
PMID:
Gene: ITGB3
HGNC: 6156
Thrombospondin-inducedAdhesionofHumanPlatelets
PMID: 2010551
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
NoEvidence: This article does not mention Glanzmann thrombasthenia patients/probands with variants in ITGA2B and/or ITGB3; therefore, there is no evidence to report
Inherited bleeding disorders
PMID: 1912663
Gene: N/A
HGNC: N/A
NoEvidence: This article does not mention Glanzmann thrombasthenia patients with variants in ITGA2B and/or ITGB3; therefore, there is no evidence to report
Integrin-Dependent Phosphorylation and Activation of the Protein Tyrosine Kinase pp125 FAr in Platelets
PMID: 1385445
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
NoEvidence: This article does not mention Glanzmann thrombasthenia patients with variants in ITGA2B and/or ITGB3; therefore, there is no evidence to report
Proteolysis of Platelet Cortactin by Calpain*
PMID: 9235918
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156, respectively
NoEvdidence: This article does not mention Glanzmann thrombasthenia patients/probands with variants in ITGA2B and/or ITGB3; therefore, there is no evidence to report
p.Ile270Ser
This variant is mentioned in reference to previously published papers that report IEMs
I270S0.0090544.7Severe[31]HurlerR628X
This variant was mentioned as being previously published (PMID: 16435195). Structural changes for this variant were analyzed by calculating RMSD and predicted this variant to result in a severe phenotype. However, this type of prediction is not used by the LD VCEP.
3.1. Patient Cohorts
This variant was found on one allele in the patient cohort, but no further details are provided.
Blood samples were collected from 28 MPSI H patients treated and followed up at the Royal Manchester Children’s Hospital over a 4-year period. The samples were collected with informed consent and under permission REC 08H101063 of the hospital’s ethical commission. The patients’ blood samples were processed within 6 h and the serum was separated and stored at −80°C. One group of patients was followed longitudinally and comprised patients who received ERT prior to HSCT (n=8). The second was a cross-sectional group of patients (n=20) studied at least 1 year after HSCT. One patient (patient 5) rejected the donor cells following HSCT and had autologous cells returned to restore hematologic function. This patient subsequently received a second allogeneic HSCT which was successful. Longitudinal data for this patient during both transplants are included in the results. The demographics, enzyme levels, details of HSCT, immune reconstitution, and immunosuppression for all patients in the longitudinal series are presented in Table 1. The transplant details and information on immunosuppression for all patients in the cross-sectional series are shown in Table 2.
This seems like it could be the same proband as from the Kuwait family in PMID:22718273 since both were said to be cases at Royal Manchester Hospital
The results indicated that large structural changes had occurred in the core region in the severe MPS I group and small ones on the molecular surface in the attenuated MPS I group.
Article is a PDF, so annotating here. This paper created structural models to predict the phenotype. This variant is predicted to cause a severe phenotype, but this model is not used for PS3 or any other codes.
p.(Arg628*)(n = 1)
This variant is mentioned only once as a nonsense allele that some HSCT patients had, but no further details provided.
Carelli et al. [28] 1 y M c.1311A>G/p.lIle437Met c.1705+1G>T LP Yes Yes Yes No Delayed Normal
This variant is mentioned as a reference to a previous publication (PMID: 25146916) which has already been included in the VCI.
Yu-Wai-Man et al. [6] unknown M c.768C>G/p.Ser256Arg c.854A>G/p.Gln285Arg Unk Yes Yes Yes Not reported unknown unknown
This variant is mentioned as a reference to a previous publication (PMID: 20157015) which has already been included in the VCI.
p.[Arg628*];[Arg628*]6 (1.6%)0
6 individuals noted to have this variant in homozygosity. This is the same as the MPS registry number of homozygotes and uses the registry, so will only be scoring for Clarke et al. paper
Von Willebrand factor profile in pregnancy: a descriptive study of 390 pregnant women in Morocco
PMID: 31447989
Gene: F8
NoEvidence: This paper does not mention the gene F8; however, it does discuss VWF.
Single Domain Antibody Fragments as New Tools for the Detection of Neuronal Tau Protein in Cells and in Mice Studies.
PMID: 31380615
Gene: F8
No Evidence: This article does not discuss F8.
Design and characterisation of a novel interleukin-15 receptor alpha fusion protein and analysis of interleukin-15 complexation
PMID: 31348785
Gene: F8
No Evidence: This article does not mention F8 or Hemophilia A
Outcomes After Urgent Thyroidectomy Following Rapid Control of Thyrotoxicosis in Graves’ Disease are Similar to Those After Elective Surgery in Well-Controlled Disease
PMID: 31430659
Gene: F8
No Evidence: This article discusses Graves Disease, there is no mention of Hemophilia A or F8.
Xanthommatin is Behind the Antioxidant Activity ofthe Skin ofDosidicus gigas
PMID: 31547094
Gene: F8
NoEvidence: No patients or variants mentioned here in this article
Enhanced Rates of C–H Bond Cleavage by a Hydrogen-Bonded Synthetic Heme High-Valent Iron(IV) Oxo Complex
PMID: 31318198
Gene: F8
NoEvidence: This paper does not mention Hemophilia A or F8. No patients and no variants included.
Scheie syndrome diagnosed after cerebral infarction
PMID: 21167740
Gene: IDUA
Disease: MPS1
Inheritance: Autosomal recessive
Mutation detection
This paper was listed under the ClinVar entry for this variant; however, only as an example to prove loss-of-function variants in IDUA are known to be pathogenic
c.704ins5
This variant is mentioned, but only as a common Japanese variant when comparing common Chinese variants to other populations.
IV-2
Case#: IV-2, Male, Yemeni, deceased at age 5 years
DiseaseAssertion: Hurler Syndrome
FamilyInfo: Parents are consanguineous first cousins (Pedigree figure #1)
CasePresentingHPOs: HP:0001640, HP:0000280, HP:0002516 (Cardiomegaly, Coarse Facial Features, Intracranial hypertension)
CaseHPOFreeText: Dysplasia
CaseNotHPOs: N/A
CaseNotHPOFreeText: N/A
CaseEnzymeAssay: N/A
CaseUrineGAGs: N/A
CaseERT: N/A
CaseBMT: N/A
GenotypingMethod: Sanger Sequencing
Variant1: N/A
Variant1ClinVarID: N/A
Variant1CAID: N/A
Variant2: N/A
Variant2ClinVarID: N/A
Variant2CAID: N/A
AdditionalVariants: N/A
ParentalGenotype: Both parents are heterozygous for the c.657delA variant of the gene (see pedigree @ figure#1)
PreviouslyPublished N/A
IV-1
Case#: IV-1, Female, Yemeni, deceased at age 2 years
DiseaseAssertion: Hurler Syndrome
FamilyInfo: Parents are consanguineous first cousins (Pedigree figure #1)
CasePresentingHPOs: HP:0001640, HP:0000280, HP:0002516 (Cardiomegaly, Coarse Facial Features, Intracranial hypertension)
CaseHPOFreeText: Dysplasia
CaseNotHPOs: N/A
CaseNotHPOFreeText: N/A
CaseEnzymeAssay: N/A
CaseUrineGAGs: N/A
CaseERT: N/A
CaseBMT: N/A
GenotypingMethod: Sanger Sequencing
Variant1: N/A
Variant1ClinVarID: N/A
Variant1CAID: N/A
Variant2: N/A
Variant2ClinVarID: N/A
Variant2CAID: N/A
AdditionalVariants: N/A
ParentalGenotype: Both parents are heterozygous for the c.657delA variant of the gene (see pedigree @ figure#1)
PreviouslyPublished N/A
6Kwaitp.Arg628* (c.1882C>T)[27]
This variant was mentioned twice (no. 6 and 12) in reference to previously published cases of MPS1 in Middle Eastern populations.
Neurologic Recovery in MPS I and MPS II Mice by AAV9-Mediated Gene Transfer to the CNS After the Development of Cognitive Dysfunction
PMID: 36541357
Gene: IDUA
Disease: MPS1
Inheritance: Autosomal recessive
Ocular axial length and corneal refraction in children with mucopolysaccharidosis (MPS I-Hurler)
PMID:20553232
Gene: IDUA
Disease: MPS1
Inheritance: Autosomal recessive
Adeno-Associated Virus Vector Mobilization, Risk Versus Reality
PMID:32829671
Estimated prevalence of mucopolysaccharidoses from population-based exomes and genomes
PMID:33208168
Gene:IDUA
Disease:NoDiseaseAssertion"
Validation of automated latex von Willebrand factor activity assay in a new prospective study including post‐treatment patient samples
PMID: 28120508
Gene: VWF
HGNCID: 12726
Diagnosis and Treatment of von Willebrand Disease and Rare Bleeding Disorders
PMID: 28394285
Gene: VWF
HGNCID: 12726
Molecular diagnosis of von Willebrand disease L. Baronciani Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico and Luigi Villa Foundation, Milan, ItalySearch for more papers by this author A. Goodeve Department of Infection, Immunity and Cardiovascular Disease, University of Sheffield Medical School, Sheffield, UKSearch for more papers by this author F. Peyvandi Corresponding Author flora.peyvandi@unimi.it orcid.org/http://orcid.org/0000-0001-7423-9864 Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico and Luigi Villa Foundation, Milan, Italy Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Milan, Italy Correspondence: Flora Peyvandi, Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico and Luigi Villa Foundation; Department of Pathophysiology and Transplantation, Università degli Studi di Milano, via Pace 9, 20122 Milan, Italy. Tel.: +39 02 5503 4456; fax: +39 02 5410 0125; e‐mail: flora.peyvandi@unimi.itSearch for more papers by this author
PMID: 28220580
Gene: VWF
HGNCID: 12726
Efficacy of Octocog Alfa (Advate) in a Child with Type 3 von Willebrand Disease and Alloantibodies
PMID: 28926986
Gene: VWF
HGNCID: 12726
Comparative analysis of von Willebrand factor profiles after implantation of left ventricular assist device and total artificial heart
PMID: 28586149
Gene: VWF
HGNCID: 12726
Increased Vasoocclusive Crises in “O” Blood Group Sickle Cell Disease Patients: Association with Underlying Thrombospondin Levels
PMID: 28512557
Gene: VWF
HGNCID: 12726
Angiodysplasia in von Willebrand disease: Understanding the clinical and basic science
PMID: 28476066
Gene: VWF
HGNCID: 12726
Current challenges in the diagnosis and management of patients with inherited von Willebrand’s disease in Italy: an Expert Meeting Report on the diagnosis and surgical and secondary long-term prophylaxis
PMID: 29313798
Gene: VWF
HGNCID: 12726
Attenuation of Cardiomyocyte Hypertrophy via Depletion Myh7 using CASAAV
PMID: 33098074
Gene: MYH7
HGNC: 7577
"This study aimed to identify the dominant function of Myh7 after birth and determine whether its removal would affect CM maturation or contribute to reversal of pathological hypertrophy phenotypes."
The Changing Face of Infantile Pompe Disease: A Report of Five Patients from the UAE
PMID: 23430513
Gene: GAA
EFFECTS OF TICLOPIDINE ON MONOCLONAL ANTI-CD9 ANTIBODY-INDUCED PLATELET AGGREGATION AND MICROPARTICLE GENERATIO
PMID: 1604445
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156, respectively as shown above
NoEvidence: This article does not mention Glanzmann thrombasthenia probands with variants in ITGA2B and/or ITGB3; therefore, there is no evidence. In this study, they analyzed the effects of ticloplidine on anti-CD9 antibody-induced platelet aggregation as well as on the release of microparticles by platelets exposed to the antibodies in vitro.
Evaluation of platelet surface glycoproteins in patients with Glanzmann thrombasthenia: Association with bleeding symptoms
PMID: 28948953
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
NoEvidence: There are no probands with specific variants-- rather, in this article, 51 patients of Glaznmann thrombasthenia were diagnosed by platelet aggregation studies and were evaluated for the expression of CD41, CD61, CD42a and CD42b on platelet surface by flow cytometry. The association between the clinical phenotype based on bleeding score and GT subtype on flow cytometric evaluation was assessed.
Clinical, Biochemical, and Molecular Aspects of Glanzmann's Thrombasthenia in Humans and Dogs
PMID: 11355654
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
NoEvidence: This article mentions GT in humans and dogs however there is no specific case report or variants in ITGA2B and/or ITGB3 mentioned
TheRoleofvonWillebrandFactorandFibrinogeninPlateletAggregationunderVaryingShearStress
PMID: 2010539
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
NoEvidence: This article does not mention Glanzmann thrombasthenia patients/probands with variants in ITGA2B and/or ITGB3; therefore, there is no evidence to report
Diagnosis of platelet function disorders: A standardized, rational, and modular flow cytometric approach
PMID: 29227167
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
NoEvidence: This article is about developing a standardized and modular flow cytometric approach, that contributes to clarify impaired platelet function in a rational step by step manner. There is no mention of variants in probands for ITGA2B or ITGB3
BlockingPlateletAggregationInhibitsThromboxaneA2FormationbyLowDoseAgonistsButDoesNotInhibitPhosphotylationandActivationofCytosolicPhospholipaseA2.
PMID: 9361365
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156, respectively
NoEvidence: This article does not mention Glanzmann thrombasthenia patients/probands with variants in ITGA2B and/or ITGB3. In this study, they made use of Ro 44-9883 as a potent non-peptide GPIIb/IIIa antagonist to address the relationship of platelet aggregation to PLA2 activation, TxA2 formation, and granule secretion.
Platelet Integrin αIIbβ3 (GPIIb-IIIa) Is Not Implicated in the Binding of LDL to Intact Resting Platelets
PMID: 9012651
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
NoEvidence: This article does not mention Glanzmann thrombasthenia patients/probands with variants in ITGA2B and/or ITGB3; therefore, there is no evidence to report
Talin distribution and phosphorylation in thrombin-activated platelets
PMID: 8126100
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
NoEvidence: This article does not mention GT probands or variants in ITGA2B and ITGB3. In this study, researchers have examined the talin phosphorylation and proteolytic cleavage as possible mechanisms by which talin's subcellular distribution could be regulated in platelets.
OPA1 OPA1 mitochondrial dynamin like GTPase 1601T>G
This variant is listed in table 1 and found on LitVar, but no case info is present and is likely mention of a previous publication
Two new IDUA mutations (D349Y and R628P) were detected at sites that had previously been reported to have mutations (D349N and R628X)
This variant was mentioned only because a novel variant was found at the same amino acid. No new case or experimental info.
a 60-year-old man and his 64-year-old sister (p.[S256R];[Q285R]), who both show ataxia, myopathy, peripheral neuropathy, and spasticity in addition to optic atrophy [42],
This variant is mentioned as a reference to a previous publication (PMID: 20157015) which has already been included in the VCI.
In another study, Atçeken et al10 analyzed 15 patients with MPSI from Turkey. They used direct sequencing to determine the disease‐caused mutations in IDUA gene and identify nine new different pathologic variants (c.494‐1G > A, c.793‐6C > G, c.793‐5C > A, p.M1L, p.Y64X, p.A327P, p.W402X, p.P533L, and p.R628X).
This variant is mentioned in reference to a previously published report (PMID: 27511503)
Instead, in P3 we found a homozygous p.Ala394Thr change; this is the second case of homozygous missense mutation in OPA1 reported to date, after the description of a patient with a severe fatal cardiomyopathy associated with the p.Leu589Arg mutation [8].
This variant is mentioned only in the context of a previous publication
These data were combined through CATCH,37 and after analysis of the results, three variants remained for further evaluation (Table S1) in genes PIGG (c.928C>T [p.Gln310∗] [GenBank: {"type":"entrez-nucleotide","attrs":{"text":"NM_001127178.2","term_id":"573459749","term_text":"NM_001127178.2"}}NM_001127178.2]), COQ5 (MIM: 616359; c.319G>A [p.Gly107Arg] [GenBank: {"type":"entrez-nucleotide","attrs":{"text":"NM_032314.3","term_id":"116063535","term_text":"NM_032314.3"}}NM_032314.3]), and RGS12 (MIM: 602512; c.188A>T [p.Gln63Leu] [GenBank: {"type":"entrez-nucleotide","attrs":{"text":"NM_002926.3","term_id":"108773791","term_text":"NM_002926.3"}}NM_002926.3]). All variants were confirmed by Sanger sequencing, and family segregation confirmed that the affected individuals, as well as the unaffected siblings, are heterozygous for the variants (Figure 3A). Variants in PIGG and COQ5 are not present in publically available databases, whereas the variant in RGS12 has a cumulative frequency of 4.95e−5 in the Exome Aggregation Consortium (ExAC) Browser.43 The variant in PIGG is nonsense, whereas the other two are missense.Open in a separate windowFigure 3Identified Variants(A) Sequencing chromatograms of the identified variant in family EG. The parents and unaffected siblings are heterozygous, whereas the affected individuals are homozygous for the c.928C>T mutation (noted by the black arrow).(B) Sequencing chromatograms of the identified variant in family JP. The father has the heterozygous c.2005C>T variant, but the mother does not (noted by the black arrow).(C) XHMM analysis using WES data of individual JP01. A microdeletion involving PIGG (chr4: 60,226–2,452,836) is indicated.(D) qPCR analysis of exons 7 and 12 of the PIGG genome from individual JP01 and her parents shows a heterozygous PIGG deletion in the affected individual, but not in her mother, suggesting that the deletion occurred de novo on the maternal chromosome.(E) Sequencing chromatograms of the identified variant in family PK are noted by the blue transparent boxes. The parents are heterozygous, and the affected individuals are homozygous for the c.2261+1G>C mutation.PIGG was considered the most prominent candidate because the variant identified causes a clear loss of function. A recent inquiry of the ExAC Browser verified that no homozygous loss-of-function variants have been reported and that the most common loss-of-function variant, c.1515G>A (p.Trp505∗) (GenBank: {"type":"entrez-nucleotide","attrs":{"text":"NM_001127178.2","term_id":"573459749","term_text":"NM_001127178.2"}}NM_001127178.2), has a minor allele frequency (MAF) of 0.0012 in the European population. This translates to a frequency of less than 1 in 600,000 individuals, compatible with a rare autosomal-recessive disorder.
This family's affected individuals have some phenotypes consistent with COQ10 deficiency (hypotonia, seizures, uniform developmental delay or intellectual disability), but the COQ5 variant was heterozygous which is inconsistent with the MOI for COQ5-AR COQ10 deficiency. Additionally, variants in other genes were found that could explain the phenotype.
while others have been shown to correlate with intermediate (T364M [13]
This variant is mentioned as one that causes an intermediate phenotype of MPS1 with a reference to a paper (PMID: 9391892) where it was previously reported. No new cases or experiments.
Toward Understanding the Antitumor Effects of Water-Soluble Fullerene Derivatives on Lung Cancer Cells: Apoptosis or Autophagy Pathways?
PMID: 31361134
Gene: F8
No Evidence: This article does not mention F8 or Hemophilia A.
Clinical assessment of cervical movement sense in those with neck pain compared to asymptomatic individuals
PMID: 31277033
Gene: F8
NoEvidence: This article does not discuss Hemophilia A, F8 or blood disorders.
Role of chromogenic assays in haemophilia A and B diagnosis
PMID: 29808946
Gene: F8
HGNC: 3546
NoEvidence: This article discusses the role of chromogenic assays in hemophilia A; no case reports in this article
Importance of diagnostic guidance in acquired hemophilia A
PMID: 31344171
Gene: F8
No Evidence: No variants or probands mentioned in this review of Hemophilia A
Extensive serum cytokine analysis in patients with prostate cancer
PMID: 31430659
Gene: F8
No Evidence: This article does not mention F8, rather it discusses cytokine analysis.
rs121965023
This SNP is mentioned as clinically relevant for MPS I, but no patient data is reported.
Patient W3 has heterozygous mutations; the maternal allele has M1I (G to A transition in the initiation codon ATG) and the paternal allele has Y343X (C to G transversion in exon 8 leading to in frame deletion of codons 325-343 from the mRNA owing to false splicing)
This paper is cited on the ClinVar page for this variant, but this is actually the c.1029C>G (p.Tyr343Ter) variant which causes the same amino acid change
Whole blood ristocetin-activated platelet impedance aggregometry (Multiplate) for the rapid detection of Von Willebrand disease
PMID: 28692107
Gene: VWF
HGNCID: 12726
Role of red blood cells in the anemia‐associated bleeding under high shear conditions
PMID: 28470853
Gene: VWF
HGNCID: 12726
Revascularization Operation for Moyamoya Disease with Concurrent von Willebrand Disease
PMID: 28866059
Gene: VWF
HGNCID: 12726
Prevalence and Risk Factors Associated With Hypertension in von Willebrand Disease
PMID: 27655998
Gene: VWF
HGNCID: 12726
Blood volume–based von Willebrand factor to prevent postpartum hemorrhage in von Willebrand disease
PMID: 29296713
Gene: VWF
HGNCID: 12726
Management of pregnancy in type 3 von Willebrand disease with alloantibodies
PMID: 28699647
Gene: VWF
HGNCID: 12726
Gene of the issue: GP1BA gene mutations associated with bleeding
PMID: 28961024
Gene: GP1BA
HGNCID: 12726
Outcome of laparoscopic ovariohysterectomy or ovariectomy in dogs with von Willebrand disease or factor VII deficiency: 20 cases (2012–2014)
PMID: 29035661
Gene: VWF
HGNCID: 12726
Comment on: Generation and optimization of the self-administered pediatric bleeding questionnaire and its validation as a screening tool for von Willebrand disease
PMID: 28727265
Gene: VWF
HGNCID: 12726
Decreased severity of Shiga toxin-producing Escherichia coli haemolytic uraemic syndrome (STEC-HUS) in a child with type 1 von Willebrand disease
PMID: 28855217
Gene: VWF
HGNCID: 12726
Laboratory monitoring of replacement therapy for major surgery in von Willebrand disease
PMID: 28111840
Gene: VWF
HGNCID: 12726
von Willebrand Disease: A Concise Review and Update for the Practicing Physician
PMID: 27920237
Gene: VWF
HGNCID: 12726
Outgrowing the laboratory diagnosis of type 1 von Willebrand disease: A two decade study Mouhamed Yazan Abou-Ismail, Corresponding Author Mouhamed Yazan Abou-Ismail yazan.abouismail@case.edu orcid.org/0000-0002-6682-4366 Department of Medicine, Rochester General Hospital, Rochester, New YorkCorrespondence M. Yazan Abou-Ismail, University Hospitals, Cleveland Medical Center, Division of Hematology & Oncology, 11100 Euclid Avenue, Cleveland, OH 44106, USA. Email: yazan.abouismail@case.eduSearch for more papers by this authorGbolahan O. Ogunbayo, Gbolahan O. Ogunbayo orcid.org/0000-0002-4140-8067 Department of Medicine, Rochester General Hospital, Rochester, New YorkSearch for more papers by this authorMichelle Secic, Michelle Secic Secic Statistical Consulting Inc, Chardon, OhioSearch for more papers by this authorPeter A. Kouides, Peter A. Kouides orcid.org/0000-0002-3857-8313 Department of Medicine, Rochester General Hospital, Rochester, New York Mary M. Gooley Hemophila Center, Rochester, New YorkSearch for more papers by this author
PMID: 29098718
Gene: VWF
HGNC: 12726 (type 1)
Note: This article is about how VWF levels change as VWD patients age.
Von Willebrand Disease type 2 in pregnancy - A critical clinical association
PMID: 28559097
Gene: VWF
HGNCID: 12726
Mechanical stretch via transforming growth factor-β1 activates microRNA-208a to regulate hypertrophy in cultured rat cardiac myocytes
PMID: 24120154
Gene: MYH7
HGNC: 7577
This study investigated whether miR208a is a critical regulator in cardiomyocyte hypertrophy under mechanical stretch.
MicroRNA-22 Downregulation by Atorvastatin in a Mouse Model of Cardiac Hypertrophy: a new Mechanism for Antihypertrophic Intervention
PMID: 23860036
Gene: MYH7
HGNC: 7577
"This study demonstrates for the first time the modulation of miRNA-22 can be achieved by pharmacological intervention. The data generated from this study provides a rationale for the development of miRNA-based strategies for antihypertrophic treatment."
Myopathies with finger flexor weakness: Not only inclusion-body myositis
PMID: 32478919
Gene: MYH7
HGNC: 7577
Unable to access full text
CTIP2 is a negative regulator of P-TEFb
PMID: 23852730
Gene: MYH7
HGNC: 7577
In hearts of hypertrophic cardiomyopathic mice, CTIP2 controls P-TEFb-sensitive pathways involved in the establishment of this pathology. Overexpression of the β-myosin heavy chain protein contributes to the pathological cardiac wall thickening. The inactive P-TEFb complex associates with CTIP2 at the MYH7 gene promoter to repress its activity. Taken together, our results strongly suggest that CTIP2 controls P-TEFb function in physiological and pathological conditions.
LC MS/MS identification of large structural proteins from bull muscle and their degradation products during post mortem storage
PMID: 24360430
Gene: MYH7
HGNC: 7577
"we used liquid chromatography coupled to tandem mass spectrometry (LC–MS/MS) to identify all of the high molecular weight proteins and their degradation products during post mortem storage, in order to determine the changes of proteins in muscle during post mortem aging and its relationship with meat quality."
Differential expression of Nad(P)H oxidase isoforms and the effects of atorvastatin on cardiac remodeling in two-kidney two-clip hypertensive rats
PMID: 23700792
Gene: MYH7
HGNC: 7577
Hypertrophic cardiomyopathy MYH7 mutation R723G alters mRNA secondary structure
PMID: 31790337
Gene: MYH7
HGNC: 7577
Evidence: no proband info
"We suggest that a different mRNA lifetime of the alleles may cause the allelic drift in R723G patients."
Compensation of the AKT signaling by ERK signaling in transgenic mice hearts overexpressing TRIM72
PMID: 23567182
Gene: MYH7
HGNC: 7577
TRIM72 expression
Alglucosidase alfa enzyme replacement therapy as a therapeutic approach for a patient presenting with a PRKAG2 mutation
PMID: 27692944
Gene: GAA
Disease: Glycogen Storage Disease II
MonDO: 0009290
InheritancePattern: autosomal recessive
NoEvidence: Case report of individual incorrectly diagnosed with Pompe carrying the NM_000152.4(GAA):c.-32-13T>G variant, he was eventually diagnosed correctly with PRKAG2 syndrome via a pathogenic variant.
At-Risk Testing for Pompe Disease Using Dried Blood Spots: Lessons Learned for Newborn Screening
PMID: PMC7780922
Gene: GAA
Disease: Pompe Disease
Inheritance: Autosomal Recessive
Glanzmann’s Thrombasthenia: AnOverview
PMID: 18930954
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
NoEvidence: This article summarizes Glanzmann thrombasthenia (GT); however, there is no mention of GT probands with variants in ITGA2B and/or ITGB3; therefore there is no evidence for our purpose
Classification of Iranian patients with Glanzmann's Thrombasthenia using a flow cytometric method
PMID: 21526886
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
NoEvidence: This article does not mention individual probands with variants in ITGA2B and ITGB3; however, the article mentions a cohort of GT patients.
Characterization of a new hereditary thrombopathy in a closed colony of Wistar rats
PMID: 8960644
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
NoEvidence: This article does not mention Glanzmann thrombasthenia patients/probands with variants in ITGA2B and/or ITGB3; therefore, there is no evidence to report. This study identifies and partially characterizes an inherited thrombopathy in a closed colony of Wistar rats.
GLYCOPROTEIN h/Ha-MEDIATED ACTIVATION-DEPENDENT PLATELET ADHESION TO COLLAGEN
PMID: 1579893
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
NoEvidence: This article does not mention Glanzmann thrombasthenia probands with variants in ITGA2B and/or ITGB3; therefore, there is no evidence. In this study, they developed an assay method of platelet adhesion to collagen in which citrated platelet rich plasma could be used as well as washed platelets in the presence of anti GPIIb/IIIa monoclonal antibody. Here, they provided the first direct evidence that the activation depended platelet adhesion to collagen is induced by ADP and that this adhesion is also mediated by GPIa/IIa.
Independent adjudicator assessments of platelet refractorinessand rFVIIa efficacy in bleeding episodes and surgeries from themultinational Glanzmann’s thrombasthenia registry
PMID: 28370369
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
NoEvidence: No GT probands or variants within ITGA2B or ITGB3 mentioned in this article
Identification of Clinicopathological Spectrum, Platelet Glycoprotein IIb/IIIa complex and Platelet Antibodies in Egyptian Children with Glanzmann’s Thrombasthenia
PMID: 28161816
Gene: ITGA2B and ITGB3
HGNC 6138 and 6156
NoEvidence: The aim of this article's study was to evaluate the clinicopathological spectrum of this syndrome and to study the platelet glycoprotein IIb/IIIa complex and platelet antibodies by flow cytometry in a cohort of children with GT in a tertiary care center in Upper Egypt. There is no mention of individual probands with variants in ITGA2B or ITGB3
Defects in Glanzmann thrombasthenia and LAD-III (LAD-1/v) syndrome: the role of integrin β1 and β3 in platelet adhesion to collagen
PMID: 22065596
Genes: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
NoEvidence: This article does not mention probands or variants in ITGA2B or ITGB3; however, there are some experimental assays for consideration
Other MPS I-H nonsense mutations (W180X, Y343X, Q400X and R628X), harbored in the compound heterozygous state, were also challenged, resulting in relevant rescue upon treatment with the exception of the Y343X variant. The highest degree of functional rescue was observed for the R628X/W402X heterozygote, suggesting additive effects of the R628X mutation, whose sequence context (UGAC) is predicted to be highly susceptible to suppression over the unresponsive W402X [57].
This paper evaluated factors shaping the outcome of readthrough, namely the nucleotide and protein context, with the latter being pivotal to produce functional full-length proteins. This variant was mentioned as a MPS I-H nonsense mutation, but no new case or experimental information.
To assess the characteristics and distribution of causal variants for Mendelian disorders in the ChinaMAP, we filtered the pathogenic variants with the annotation of ClinVar database (20180603)22,23 and HGMD (Human Gene Mutation Database, 2016.2),24 and further analyzed the disease-causing variants following the guidelines from the ACMG (American College of Medical Genetics and Genomics).25 A total of 2026 variants or 1619 variants in the HGMD DM set were annotated as pathogenic or likely pathogenic by the ClinVar or ACMG, respectively (Fig. 3c and Supplementary information, Table S7).
Database information for this variant was compiled on supplementary table s7, but no new case or experimental data.
Molecular analysis was done for all 30 patients and a total of 22 different disease-causing variants were identified: p.Met1?, c.158+5delinsAA, p.Ala75Pro, p.Ala75Thr, p.Leu121Pro, p.Trp180*, p.Gly253Cys, p.His262Thrfs*55, p.Glu299*, p.Lys324Arg, c.972-1G>T, p.Thr366Argfs*73, p.Asn372Ser, p.Leu387Pro, c.1402+1G>A, p.Leu490Pro, p.Met504Arg, c.1524+1G>C, p.Gln587*, p.Arg619*, p.Arg621* and p.Ser633Leu (http://www.hgvs.org/mutnomen/recs.html) (Table 1).
This paper was listed in ClinVar, but only because it affects another residue (p.Ser633Leu) downstream which was mentioned in this paper.
9Hc.704ins5 (p.W235Cfs*84)c.1037T>G (p.L346R)Ref#610Hc.704ins5 (p.W235Cfs*84)c.1854C>A (p.Y618*)Ref#611Hc.704ins5 (p.W235Cfs*84)c.1037T>G (p.L346R)Ref#612Hc.704ins5 (p.W235Cfs*84)c.1037T>G (p.L346R)Ref#6
Cases were previously reported in PMID: 15521993.
p.Arg628Ter
This variant is mentioned as top recurrent variant and refers to several studies that have already been included in the curation. No new data.
genotypes of MPS I patients from 35 published studies papers
This is a review article that focuses on the prevalence of IDUA variants. The IDUA variants are not linked to specific patients or patient descriptions.
Effects of Exergames on Brain Dynamics in Women with Fibromyalgia: A Randomized Controlled Trial
PMID: 31336706
Gene: F8
NoEvidence: The aim of was to evaluate the effects of a 24-week "Exergame intervention" on resting brain dynamics in women with fibromyalgia in a single-blinded, randomized controlled trial. No mention of Hemophilia A or F8 gene.
5 nonsense mutations
This paper was listed on the ClinVar entry for this variant; however it was only included to show that loss-of-function variants in IDUA are known to be pathogenic
Two vitellogenins in the loliginid squid Uroteuthis edulis: Identification and specific expression in ovarian follicles
PMID: 28218427
Gene: VWF
HGNCID: 12726
Current and Emerging Options for the Management of Inherited von Willebrand Disease
PMID: 28791655
Gene: VWF
HGNCID: 12726
Controversies in the diagnosis of Type 1 von Willebrand disease
PMID: 28447419
Gene: VWF
HGNCID: 12726
Von Willebrand's disease: case report and review of literature
PMID: 28904675
Gene: VWF
HGNCID: 12726
Coagulation Testing in the Core Laboratory
PMID: 29126301
Gene: VWF
HGNC: 12726 (type 1)
Note: This article is about platelet coagulation and how to test it.
A prospective diagnostic accuracy study evaluating rotational thromboelastometry and thromboelastography in 100 patients with von Willebrand disease
PMID: 27785858
Gene: VWF
HGNCID: 12726
Bleeding score in Type 1 von Willebrand disease patients using the ISTH-BAT questionnaire A. Pathare, Corresponding Author A. Pathare avp16@hotmail.com orcid.org/0000-0003-3205-0611 Department of Haematology, College of Medicine & Health Sciences, Sultan Qaboos University Hospital, Muscat, Oman Correspondence Dr. Anil Pathare, Department of Haematology, Sultan Qaboos University Hospital, Muscat, Oman. Email: avp16@hotmail.comSearch for more papers by this authorS. Al Omrani, S. Al Omrani Department of Haematology, College of Medicine & Health Sciences, Sultan Qaboos University Hospital, Muscat, OmanSearch for more papers by this authorF. Al Hajri, F. Al Hajri Department of Haematology, College of Medicine & Health Sciences, Sultan Qaboos University Hospital, Muscat, OmanSearch for more papers by this authorN. Al Obaidani, N. Al Obaidani Department of Haematology, College of Medicine & Health Sciences, Sultan Qaboos University Hospital, Muscat, OmanSearch for more papers by this authorB. Al Balushi, B. Al Balushi Department of Haematology, College of Medicine & Health Sciences, Sultan Qaboos University Hospital, Muscat, OmanSearch for more papers by this authorK. Al Falahi, K. Al Falahi Department of Haematology, College of Medicine & Health Sciences, Sultan Qaboos University Hospital, Muscat, OmanSearch for more papers by this author
PMID: 29115727
Gene: VWF
HGNC: 12726 (type 1)
Note: This article is about how the median ISTH-BAT questionnaire score for VWD type 1 was 7 (IQR; 2,11).
Reply to comment on: Generation and optimization of the self-administered pediatric bleeding questionnaire and its validation as a screening tool for von Willebrand disease
PMID: 28792666
Gene: VWF
HGNCID: 12726
Contractile abnormalities and altered drug response in engineered heart tissue from Mybpc3-targeted knock-in mice
PMID: 23896226
Gene: MYH7
HGNC: 7577
"Myosin-binding protein C (Mybpc3)-targeted knock-in mice (KI) recapitulate typical aspects of human hypertrophic cardiomyopathy. We evaluated whether these functional alterations can be reproduced in engineered heart tissue (EHT) and yield novel mechanistic information on the function of cMyBP-C."