EXTL3, HGNC:3518
Neuro-immuno-skeletal Dysplasia Syndrome
OMIM: 617425
7 Matching Annotations
- Last 7 days
-
pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
-
(A) With ARL2BP, photoreceptor OS develops normally, with correct DMT formation, axoneme extension, and disk alignment.
Selection A- Gene with same function implicated in disease
ExperimentName: Moye et al. 2018
GOterm: GO:0051179 (localization)
FunctionalEvidence: It was discovered that without ARL2BP, the photoreceptor OS does not develop normally or have correct DMT formation, axoneme extension, and disk alignment.
HGNC: HGNC:10295 (RPGR), HGNC:10263 (RP1), HGNC:6816 (MAK)
GeneEvidence: ARL2BP, RPGR, RP1 and MAK are all localized within the ciliary basal body and rootlet.
SharedGeneImplication: RPGR was classified as having a "definitive" relationship with RP 15 by the Retina GCEP. Refer to the curation for further details. RP1 was classified as having a "definitive" relationship with RP1 by the Retina GCEP. Refer to the curation for further details. MAK was classified as having a "definitive" relationship with MAK-related retinopathy by the Retina GCEP. Refer to the curation for further details.
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
RSPH1 and RSPH9, here highlighted, are known to be components of the RS head in human respiratory cilia
Selection A- Gene with same function implicated in disease
ExperimentName: Aprea et al. 2023
GOterm: GO:0001535 (radial spoke head)
FunctionalEvidence: Taken together, our results indicate that the ruler proteins CCDC39 and CCDC40, the radial spoke head proteins RSPH1 and RSPH9 as well as the central pair associated apparatus proteins SPEF2 and HYDIN have a similar functional role in motile cilia and sperm flagella, as hypothesized in Figure 1.
HGNC: HGNC:12371
GeneEvidence: PMID: 24518672 documents how RSPH1 and RSPH9, which encode homologs of components of the ‘head’ structure of ciliary radial spoke complexes identified in Chlamydomonas, cause clinical phenotypes that appear to be indistinguishable except at the gene level. They both also have a relationship with PCD.
SharedGeneImplication: The gene-disease relationship between RSPH1 and PCD has been established and published in multiple papers. See Motile Ciliopathy GCEP curations of RSPH1 for more information.
-
-
pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
-
(B) Schematic of the axonemal 96 nm repeat unit, including the composition of the IDA subspecies and the location of axonemal components. DNAH7, DNAH6, and DNAH1 are highlighted in purple, orange, and yellow, respectively. The stalks of the IDA dynein heavy chains are highlighted in blue or pink, depending on whether they are associated with DNALI1 or CETN2. The CCDC39/40 ruler complex is depicted in light and dark green.
Selection A- Gene with same function implicated in disease
ExperimentName: Wilken et al. 2024
GOterm: GO:0036156 (inner dynein arm).
FunctionalEvidence: Both DNAH6 and DNAH1 are both IDA components and localized to the same region.
HGNC: HGNC:2940 (DNAH1).
GeneEvidence: Both DNAH6 and DNAH1 are both IDA components and localized to the same region.
SharedGeneImplication: DNAH1 was classified as having a "limited" relationship with PCD 37 and a “defintive” relationship with spermatogenic failure 18 by the Motile Ciliopathy GCEP. Refer to the curation for further details.
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
Four genes cause PCD through radial spoke defects - RSPH9 (Chr 6), RSPH4A (Chr 6), RSPH3 (Chr 6), and RSPH1 (Chr 21). These mutations produce various defects at the junction of the radial spoke heads and the central apparatus, resulting in diverse ciliary ultrastructure changes on TEM.
Selection A - Gene with same function implicated in disease
ExperimentName: Shapiro 2007 et al.
GOterm: GO:0051179 (localization)
FunctionalEvidence: RSPH3 and RSPH9 are both localized to radial spoke heads and have a similar phenotype profile.
HGNC: HGNC:21057.
GeneEvidence: PMID: 20301301 documents how RSPH9 and RSPH3, which encode homologs of components of the ‘head’ structure of ciliary radial spoke complexes identified in Chlamydomonas, cause clinical phenotypes that appear to be indistinguishable except at the gene level. They both also have a relationship with PCD.
SharedGeneImplication: The gene-disease relationship between RSPH9 and PCD has been established and published in multiple papers. See Motile Ciliopathy GCEP curations of RSPH9 for more information.
-
-
watermark.silverchair.com watermark.silverchair.com
-
Mapping of a distal form of spinal muscular atrophywith upper limb predominance to chromosome 7p
PMID: 8541851
GeneName: GARS1
HGNC: HGNC:4162
Disease: CMT2D
MonDO ID:
Inheritance: Autosomal Dominant
-
-
pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
-
The source focuses on the clinical, immunological, and molecular features of Severe Combined Immune Deficiency (SCID) based on a multi-institutional experience from India. The specific gene studied in this case is IL2RG. The HGNCID for this gene is HGNC:6016. The sources provide information about a 6-month-old male patient with SCID. The patient's family history suggests a possible X-linked inheritance pattern. The sources note the absence of autoimmunity and malignancies in the patient. Information regarding the patient's variant, previous testing, and publication history is not available in the sources.
-