BRIDGE_SPEED_NEURO_20170705
Gene: GRM1

GRM1 (glutamate metabotropic receptor 1)
EnsemblGeneIds (GRCh38): ENSG00000152822
EnsemblGeneIds (GRCh37): ENSG00000152822
OMIM: 604473, Gene2Phenotype
GRM1 is in 8 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_201507;in_ddg2p_2_4_2017;in_gilissen_2014_known;in_omim_20150205_movement . Main mutation mechanism : Loss of function
Created: 28 Jul 2017, 9:22 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

25529582
24896178
omim.org

Created: 2 Aug 2017, 3:52 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

Spinocerebellar ataxia, autosomal recessive 13, 614831

OMIM

604473

Clinvar variants

Variants in GRM1

Penetrance

Complete

Panels with this gene

History Filter Activity

27 Jul 2017, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

GRM1 was added to BRIDGE_SPEED_NEURO_20170705panel. Sources: BRIDGE study SPEED NEURO Tier1 Gene,Expert Review Green

27 Jul 2017, Gel status: 0

Created