Genomics England
GMS Panels
Panels
Genes and Entities

RBM8A

RNA binding motif protein 8A
OMIM: 605313
PanelMode of inheritanceDetails
5 panels
Green
in Bleeding and platelet disorders
R-numbers: R90
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
274000 Thrombocytopenia-absent radius syndrome
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME 274000
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME
Green
in Limb disorders
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Thrombocytopenia-absent radius syndrome, 274000
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 5.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Thrombocytopenia-absent radius syndrome 274000