RAB3GAP2

RAB3 GTPase activating non-catalytic protein subunit 2
OMIM: 609275
PanelMode of inheritanceDetails
7 panels
R-numbers: R31
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Martsolf syndrome 1, OMIM:212720, Warburg micro syndrome 2, OMIM:614225
R-numbers: R61
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Martsolf syndrome 1, OMIM:212720, Warburg micro syndrome 2, OMIM:614225
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MARTSOLF SYNDROME 212720
R-numbers: R21, R412
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MARTSOLF SYNDROME
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Martsolf syndrome 1, OMIM:212720, Warburg micro syndrome 2, OMIM:614225
Component of the following Super Panels:
  • - Cerebral malformation
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Warburg micro syndrome 2, OMIM:614225, Warburg micro syndrome 2 MONDO:0013641
R-numbers: R36
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Martsolf syndrome 1, OMIM:212720, Warburg micro syndrome 2, OMIM:614225