Bilateral congenital or childhood onset cataracts
Gene: RAB3GAP1

RAB3GAP1 (RAB3 GTPase activating protein catalytic subunit 1)
EnsemblGeneIds (GRCh38): ENSG00000115839
EnsemblGeneIds (GRCh37): ENSG00000115839
OMIM: 602536, Gene2Phenotype
RAB3GAP1 is in 10 panels

2 reviews

Sarah Waller (Manchester Centre for Genomic Medicine)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Warburg Micro syndrome-1

Publications

Handley et al (2013) Hum Mutat 34:686-96

Variants in this GENE are reported as part of current diagnostic practice

Created: 14 Jun 2016, 8:28 a.m.

Panel version: 0.383

Ellen McDonagh (Genomics England Curator)

Green List (high evidence)

Is on the Manchester congenital cataracts gene panel, and is a confirmed DD gene for Warburg micro syndrome type 1 (includes congenital cataract as a phenotype.
Created: 29 Apr 2016, 1:52 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Warburg micro syndrome 1

Created: 29 Apr 2016, 1:52 p.m.

Panel version: 0.0

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
UKGTN

Phenotypes

Warburg micro syndrome 1
Warburg Micro syndrome-1

OMIM

602536

Clinvar variants

Variants in RAB3GAP1

Penetrance

Complete

Publications

Handley et al (2013) Hum Mutat 34:686-96

Panels with this gene