BRIDGE_SPEED_NEURO_v2.0_20160416
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)

ddg2p_20141118; ddg2p_201507; gilissen_2014_known; omim_20150205_movement; sfari_20150206; Nijmegen_ID_diagnostic; GEL_ID_green_20160217; neuro_20160418_strict; Loss of function
Created: 7 Feb 2017, 4:29 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spinocerebellar ataxia, autosomal recessive 13, 614831

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

Created: 7 Feb 2017, 4:29 p.m.

Panel version: 0.2

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

BRIDGE

Phenotypes

Spinocerebellar ataxia, autosomal recessive 13, 614831

OMIM

604473

Clinvar variants

Variants in GRM1

Penetrance

Complete

Panels with this gene

History Filter Activity

7 Feb 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

GRM1 was created by ellenmcdonagh

7 Feb 2017, Gel status: 0

Added New Source