BRIDGE_SPEED_NEURO_20170705
Gene: RAB3GAP1

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

1 review

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

This is a pertinent gene from the NIHR BioResource - Rare Diseases Study (NIHRBR-RD) BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene is on the SPEED_NEURO_20170705 gene list. Evidences used for SPEED NEURO gene list: in_ddg2p_20141118_conf;in_ddg2p_20141118_conf;in_ddg2p_201507;in_ddg2p_201507_conf;in_ddg2p_2_4_2017;in_ddg2p_2_4_2017_conf;in_gilissen_2014_known;in_UKGTN_v12 . Main mutation mechanism : Loss of function
Created: 28 Jul 2017, 10:39 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

25529582
24896178
Version 12 ukgtn.nhs.uk

Created: 2 Aug 2017, 6:32 p.m.

Panel version: 0.191

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

BRIDGE study SPEED NEURO Tier1 Gene
Expert Review Green

Phenotypes

Warburg micro syndrome 1, 600118

OMIM

602536

Clinvar variants

Variants in RAB3GAP1

Penetrance

Complete

Panels with this gene

History Filter Activity

27 Jul 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

RAB3GAP1 was created by LouiseD

27 Jul 2017, Gel status: 4

Added New Source