Corneal abnormalities
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

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Discussed with Chris Campbell and the Manchester GDL group, and should be promoted to green.
Created: 22 Feb 2017, 11:19 a.m.

Created: 22 Feb 2017, 11:19 a.m.

Panel version: 0.165

Chris Campbell (NHS)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Warburg micro syndrome

Publications

15696165

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

Created: 7 Feb 2017, 5:35 p.m.

Panel version: 0.3

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
GDL Corneal Abnormalities panel

Phenotypes

Warburg micro syndrome 1 600118

OMIM

602536

Clinvar variants

Variants in RAB3GAP1

Penetrance

Complete

Publications

15696165

Panels with this gene

History Filter Activity

9 Mar 2017, Gel status: 4

panel promoted to version 1

Chris Campbell (GEL)

09/03/2017 Revised and approved to Version 1.0 after expert and internal review.

22 Feb 2017, Gel status: 4