Disease: mild haemophilia A, influencing VWF levels

Patient: 20 yo, Female

Variant1: F8 NM_000132.3: c.1127T>G: p. Val376Gly (Exon 8, current clinvar interpretation not available)

Variant 2: F8 NM_000132.3: c.3780C>G: p. Asp1260Glu (Exon 14, current ClinVar interpretation is benign)

Variant 3: VWF NM_000552.5: c.1415A>G:p.His484Arg (Exon 13, current ClinVar interpretation is Benign/likely Benign)

Variant 4: VWF NM_000552.5: c.2365A>G:p.Thr789Ala (Exon 18, current ClinVar interpretation is Benign/ likely Benign)

Variant 5: VWF NM_000552.5: c.2771G>A:p.Arg924Gln (Exon 21, current ClinVar interpretation is conflicting interpretations of pathogenicity (VUS-3)(Benign-4)(Likely benign-1))

Variant 6: VWF NM_000552.5: c.4141A>G:p.Thr1381Ala (Exon 28, current ClinVar interpretation is Benign/ Likely Benign)

Variant 7: VWF NM_000552.5: c.6532G>T:p.Ala2178Ser (Exon 37, Conflicting interpretations of pathogenicity: (VUS-1) (Likely Benign-1))

Variant 8: F5 NM_000130.5: c.2773A>G:p.Lys925Glu (Exon 13, current ClinVar interpretation is Benign/Likely Benign)

Variant 9: F5 NM_000130.5: c.2594A>G:p.His865Arg (Exon 13, current ClinVar interpretation is Benign/Likely Benign)

Variant 10: F5 NM_000130.5: c.2573A>G:p.Lys858Arg (Exon 13, Conflicting interpretations of pathogenicity: (VUS-1) (Benign-2)(Likely Benign-1))

Variant 11: F5 NM_000130.5: c.5290A>G:p.Met1764Val (Exon 16, Conflicting interpretations of pathogenicity: (VUS-1) (Benign-2)(Likely Benign-1))

Variant 12: F13A1 NM_000129.4: c.103G>T:p.Val35Leu (Exon 2, Conflicting interpretations of pathogenicity: (VUS-1) (Benign-3))

Variant notes: All are heterozygous

Both variants in F8 are linked to reports associated with haemophilia, though second variant is considered benign.

Phenotypes: History of bleeding (Heavy mentrual bleeding since menarche)(Treated with transdermal oestrogen and Levonorgestel), iron deficiency anaemia. High Janssen score for pictorial blood assessment. Gum bleeding lasting longer than 10 minutes(Treated with local application of tranexamic acid), recurrent nosebleeds, high score for ISTH and BAT assessments. Decrease in VWF:Ag ratio, VWF:CB ratio decreased, VWF: GPIbR ratio decreased

Family: Maternal grandfather possibly haemophiliac, mother asymptomatic

Case#: pt I, 21 y/o male

DiseaseAssertion: GAMT deficiency

FamilyInfo:non-consangeous parents of Yemenite Jewish descent

CasePresentingHPOs: expressive speech was delayed, reduced strength and stamina, delayed general cognitive function

CaseHPOFreeText: N/A

CaseNotHPOs:N/A

CaseNotHPOFreeText: N/A

Biochemical analyte testing: abnormal CK and EMG results

Brain Magnetic Resonance Spectroscopy (MRS): appeared normal

GAMT activity assay: N/A

Zygosity: autosomal recessive

Variant 1: OMIM 612718

ClinVarID: N/A

CAID: N/A

gnomAD: N/A

Case#: N/A

DiseaseAssertion: AGAT mutation

FamilyInfo: N/A

CasePresentingHPOs: N/A

CaseHPOFreeText: N/A

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

Biochemical analyte testing: N/A

Brain Magnetic Resonance Spectroscopy (MRS): N/A

GAMT activity assay: N/A

Zygosity: homozygous

Variant 1: OMIM 602360

ClinVarID: 8303

CAID: CA340769

gnomAD: N/A

Case#: N/A

DiseaseAssertion: AGAT mutation

FamilyInfo: N/A

CasePresentingHPOs: N/A

CaseHPOFreeText: N/A

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

Biochemical analyte testing: N/A

Brain Magnetic Resonance Spectroscopy (MRS): N/A

GAMT activity assay: N/A

Zygosity: homozygous

Variant 1: OMIM 602360

ClinVarID: 8303

CAID: CA340769

gnomAD: N/A

Case#: N/A

DiseaseAssertion: AGAT mutation

FamilyInfo: N/A

CasePresentingHPOs: N/A

CaseHPOFreeText: N/A

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

Biochemical analyte testing: N/A

Brain Magnetic Resonance Spectroscopy (MRS): N/A

GAMT activity assay: N/A

Zygosity: homozygous

Variant 1: OMIM 602360

ClinVarID: 8303

CAID: CA340769

gnomAD: N/A

Nweke (Ph.D.), F. E. (2021). AN EVALUATION OF NIGERIAN CHORISTERS’ LEVERAGE ON TECHNOLOGY IN THE FACE OF COVID-19 PANDEMIC. PsyArXiv. https://doi.org/10.31234/osf.io/67zuk

The Coronavirus (COVID-19) outbreak highlights serious deficiencies in scholarly communication. (2020, March 5). Impact of Social Sciences. https://blogs.lse.ac.uk/impactofsocialsciences/2020/03/05/the-coronavirus-covid-19-outbreak-highlights-serious-deficiencies-in-scholarly-communication/

Mathias Bynens en Twitter: “New accessibility feature in @ChromeDevTools: simulate vision deficiencies, including blurred vision & various types of color blindness. 🔥 Find out how people with vision deficiencies experience your web app, and resolve contrast issues you didn’t even know you had! https://t.co/QKLQmEhhMM” / Twitter. (n.d.). Twitter. Retrieved April 28, 2020, from https://twitter.com/mathias/status/1237393102635012101

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