RAB3GAP2

RAB3 GTPase activating non-catalytic protein subunit 2
OMIM: 609275
PanelMode of inheritanceDetails
5 panels
Green
in Cataracts
R-numbers: R31
Signed-off version 2.76
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Martsolf syndrome, Warburg micro syndrome 2, Warburg Micro syndrome-2
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MARTSOLF SYNDROME 212720
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MARTSOLF SYNDROME
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
Martsolf syndrome, 212720Warburg micro syndrome 2, 614225, MARTSOLF SYNDROME (MARTS)
R-numbers: R36
Signed-off version 1.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Martsolf syndrome, 212720, Warburg micro syndrome 2, 614225, Martsolf syndrome, 212720Warburg micro syndrome 2, 614225, Warburg Micro Syndrome