Genomics England
GMS Panels
Panels
Genes and Entities

RAB3GAP1

RAB3 GTPase activating protein catalytic subunit 1
OMIM: 602536
PanelMode of inheritanceDetails
6 panels
Green
in Bilateral congenital or childhood onset cataracts
R-numbers: R31
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Warburg micro syndrome 1, Warburg Micro syndrome-1
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.79
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
WARBURG MICRO SYNDROME TYPE 1 600118
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 3.122
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
WARBURG MICRO SYNDROME TYPE 1
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 5.343
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Warburg micro syndrome 1, 600118, WARBURG MICRO SYNDROME TYPE 1
Green
in Malformations of cortical development
Component of the following Super Panels:
  • - Cerebral malformation
Signed-off version 4.12
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Warburg micro syndrome 1 OMIM:600118, Warburg micro syndrome 1 MONDO:0010822
Green
in Structural eye disease
R-numbers: R36
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Warburg micro syndrome 1, 600118, Warburg Micro Syndrome