Genomics England
GMS Panels
Panels
Genes and Entities

RABGAP1

RAB GTPase activating protein 1
OMIM: 615882
PanelMode of inheritanceDetails
1 panel
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
RABGAP1-related neurodevelopmental disorder with microcephaly and sensorineural hearing loss