Cataracts

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 14 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-2; Martsolf syndrome

Publications

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

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

Ellen McDonagh (Genomics England Curator)

Green List (high evidence)

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

Details

History Filter Activity

14 Jun 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

14 Jun 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for RAB3GAP2 were set to Martsolf syndrome; Warburg micro syndrome 2; Warburg Micro syndrome-2

14 Jun 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for RAB3GAP2 were set to Martsolf syndrome; Warburg micro syndrome 2;Warburg Micro syndrome-2; Martsolf syndrome

14 Jun 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for RAB3GAP2 were set to Handley et al (2013) Hum Mutat 34:686-96

31 May 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for RAB3GAP2 were set to Martsolf syndrome, Warburg micro syndrome 2

31 May 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

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

13 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

RAB3GAP2 was added to Cataractspanel. Sources: UKGTN