Corneal abnormalities

Gene: RAB3GAP2

Green List (high evidence)

RAB3GAP2 (RAB3 GTPase activating non-catalytic protein subunit 2)
EnsemblGeneIds (GRCh38): ENSG00000118873
EnsemblGeneIds (GRCh37): ENSG00000118873
OMIM: 609275, Gene2Phenotype
RAB3GAP2 is in 16 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, 11:20 a.m.

Chris Campbell (NHS)

Green List (high evidence)

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

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

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

22 Feb 2017, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for RAB3GAP2 were set to Martsolf syndrome 212720;Warburg micro syndrome 2 614225

22 Feb 2017, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for RAB3GAP2 were set to 16532399; 20967465

22 Feb 2017, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for RAB3GAP2 was changed to BIALLELIC, autosomal or pseudoautosomal

22 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

19 Jan 2017, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

RAB3GAP2 was added to Corneal abnormalitiespanel. Sources: GDL Corneal Abnormalities panel

19 Jan 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

RAB3GAP2 was created by ellenmcdonagh