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
|