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Table 4 Pathogenic and likely pathogenic variants identified in genes associated with autosomal recessive and X-linked recessive bleeding and platelet disorders

From: Human phenotype ontology annotation and cluster analysis to unravel genetic defects in 707 cases with unexplained bleeding and platelet disorders

Case Position Gene Ref Alt Genotype HGMD Effect a Haematological HPO terms Other HPO terms Classification:
Variant Phenotype
B200286 3:148881737 HPS3 G C C|C Yes Abnormal splicing Bleeding with minor or no trauma, subcutaneous haemorrhage, menorrhagia, postpartum haemorrhage, impaired ADP-induced platelet aggregation, impaired epinephrine-induced platelet aggregation, epistaxis, prolonged bleeding after surgery, prolonged bleeding after dental extraction, increased mean platelet volume. Hypothyroidism, visual impairment, nystagmus, albinism. PV Explained
B200412 3:148858819 HPS3 T TA T|TA No Frameshift Impaired epinephrine-induced platelet aggregation, bleeding with minor or no trauma, subcutaneous haemorrhage, epistaxis, menorrhagia, prolonged bleeding after surgery, abnormal dense granules. Ocular albinism. LPV Possibly explained
3:148876539 HPS3 G A G|A No W593a   LPV
B200068 10:103827041 HPS6 C G C|G No L604V Increased mean platelet volume. Congenital cataract, strabismus, maternal diabetes. LPV Possibly explained
10:103827554 HPS6 C G C|G No L775V LPV
B200196 X:48542673 WAS C T T Yes T45M Thrombocytopenia, abnormal bleeding, decreased mean platelet volume, abnormal platelet shape. Recurrent infections. PV Explained
B200725 X:48544145 WAS T C C Yes F128S Monocytosis, neutrophilia, thrombocytopenia, leukocytosis, subcutaneous haemorrhage, gastrointestinal haemorrhage.   PV Explained
B200443 X:138633272 F9 G A A Yes R191H Reduced factor IX activity, impaired ADP-induced platelet aggregation, bleeding with minor or no trauma, spontaneous haematomas, abnormal number of dense granules.   PV Partially explained
B200452 X:154124407 F8 C G G Yes S2125T Reduced factor VIII activity, persistent bleeding after trauma, prolonged bleeding after surgery, prolonged bleeding after dental extraction, bleeding requiring red cell transfusion, impaired collagen-induced platelet aggregation, bleeding with minor or no trauma, joint haemorrhage, abnormal platelet shape, abnormal number of dense granules.   PV Partially explained
B200772 X:154176011 F8 A G G No F692S Reduced factor VIII activity, bruising susceptibility, impaired ADP-induced platelet aggregation, impaired collagen-induced platelet aggregation, impaired thromboxane A2 agonist-induced platelet aggregation, impaired ristocetin-induced platelet aggregation, impaired arachidonic acid-induced platelet aggregation, impaired thrombin-induced platelet aggregation, abnormal platelet granules, bleeding with minor or no trauma.   LPV Possibly partially explained
  1. Alt: alternative; Ref: reference.
  2. aEffect considered relative to the Consensus Coding Sequence (CCDS) for each gene.
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Genome Medicine

ISSN: 1756-994X

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