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 | Â | 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. | Â | 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. | Â | 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. | Â | 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. | Â | LPV | Possibly partially explained |