RBM8A

RNA binding motif protein 8A
OMIM: 605313
PanelMode of inheritanceDetails
5 panels
R-numbers: R90
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
274000 Thrombocytopenia-absent radius syndrome
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME 274000
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Thrombocytopenia-absent radius syndrome, 274000
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Thrombocytopenia-absent radius syndrome 274000