RAB23

RAB23, member RAS oncogene family
OMIM: 606144
PanelMode of inheritanceDetails
6 panels
R-numbers: R100
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Carpenter syndrome 201000, 201000
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ACROCEPHALOPOLYSYNDACTYLY TYPE 2 201000
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ACROCEPHALOPOLYSYNDACTYLY TYPE 2
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ACROCEPHALOPOLYSYNDACTYLY TYPE 2
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Carpenter syndrome 201000, Polydactyly, ACROCEPHALOPOLYSYNDACTYLY TYPE 2
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Carpenter syndrome 201000