Childhood onset dystonia, chorea or related movement disorder
Gene: GRM1

GRM1 (glutamate metabotropic receptor 1)
EnsemblGeneIds (GRCh38): ENSG00000152822
EnsemblGeneIds (GRCh37): ENSG00000152822
OMIM: 604473, Gene2Phenotype
GRM1 is in 8 panels

1 review

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

I don't know

Created: 9 Jul 2019, 4:24 p.m.
Last Modified: 9 Jul 2019, 4:24 p.m.
Panel version: Imported from GMS Neurology specialist test group-Movement disorders - childhood onset-LNGLH_v2 panel version 0.9

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

London North GLH
Expert Review Amber

Phenotypes

Spinocerebellar ataxia 44, 617691
Spinocerebellar ataxia, autosomal recessive 13, 614831

OMIM

604473

Clinvar variants

Variants in GRM1

Penetrance

None

Panels with this gene

History Filter Activity

7 Dec 2019, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: GRM1 were changed from to Spinocerebellar ataxia 44, 617691; Spinocerebellar ataxia, autosomal recessive 13, 614831

7 Dec 2019, Gel status: 2

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: GRM1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

6 Dec 2019, Gel status: 2

Created, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

gene: GRM1 was added gene: GRM1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert Review Amber,London North GLH Mode of inheritance for gene: GRM1 was set to

Childhood onset dystonia, chorea or related movement disorder Gene: GRM1