Bilateral congenital or childhood onset cataracts
Gene: RAB3GAP2
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Warburg Micro syndrome-2; Martsolf syndrome
Publications
Variants in this GENE are reported as part of current diagnostic practice
Is on the Manchester congenital cataracts gene panel and is a confirmed DD gene for MARTSOLF SYNDROME (includes a cataract phenotype).Created: 29 Apr 2016, 1:54 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Martsolf syndrome, Warburg micro syndrome 2
Phenotypes for gene: RAB3GAP2 were changed from Martsolf syndrome; Warburg micro syndrome 2; Warburg Micro syndrome-2 to Martsolf syndrome 1, OMIM:212720; Warburg micro syndrome 2, OMIM:614225
This gene has been classified as Green List (High Evidence).
Phenotypes for RAB3GAP2 were set to Martsolf syndrome; Warburg micro syndrome 2; Warburg Micro syndrome-2
Phenotypes for RAB3GAP2 were set to Martsolf syndrome; Warburg micro syndrome 2;Warburg Micro syndrome-2; Martsolf syndrome
Publications for RAB3GAP2 were set to Handley et al (2013) Hum Mutat 34:686-96
Phenotypes for RAB3GAP2 were set to Martsolf syndrome, Warburg micro syndrome 2
Mode of inheritance for RAB3GAP2 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
RAB3GAP2 was added to Cataractspanel. Sources: UKGTN