BRIDGE_SPEED_NEURO_20170705
Gene: GOSR2

GOSR2 (golgi SNAP receptor complex member 2)
EnsemblGeneIds (GRCh38): ENSG00000108433
EnsemblGeneIds (GRCh37): ENSG00000108433
OMIM: 604027, Gene2Phenotype
GOSR2 is in 9 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_omim_20150205_epilepsies . Main mutation mechanism : NA
Created: 28 Jul 2017, 9:21 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

omim.org

Created: 2 Aug 2017, 3:47 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

Epilepsy, progressive myoclonic 6, 614018

OMIM

604027

Clinvar variants

Variants in GOSR2

Penetrance

Complete

Panels with this gene

History Filter Activity

27 Jul 2017, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

GOSR2 was added to BRIDGE_SPEED_NEURO_20170705panel. Sources: BRIDGE study SPEED NEURO Tier1 Gene,Expert Review Green

27 Jul 2017, Gel status: 0

Created