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  2. Ataxia and cerebellar anomalies - narrow panel
  3. GRM1
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Ataxia and cerebellar anomalies - narrow panel

Gene: GRM1

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

1 review

Arina Puzriakova (Genomics England Curator)

One juvenile case (presenting ataxic gait and ID) associated with a heterozygous variant was reported (PMID:28886343) but this is not yet sufficient to test heterozygous variants on childhood-onset panel as this may pose a risk of detecting carrier status for an adult-onset condition (typically associated with pathogenic heterozygous GRM1 variants). Added watchlist_moi tag to monitor for additional childhood-onset cases associated with AD inheritance.
Created: 1 Nov 2022, 4:51 p.m. | Last Modified: 1 Nov 2022, 4:51 p.m.
Panel Version: 2.308
Created: 1 Nov 2022, 4:51 p.m.
Last Modified: 1 Nov 2022, 4:51 p.m.
Panel version: 2.308

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Spinocerebellar ataxia 44, OMIM:617691
  • Spinocerebellar ataxia, autosomal recessive 13, OMIM:614831
Tags
watchlist_moi
OMIM
604473
Clinvar variants
Variants in GRM1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Nov 2022, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag watchlist_moi tag was added to gene: GRM1.

1 Nov 2022, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

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

1 Nov 2022, Gel status: 3

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: GRM1 were set to

9 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Checked against super panel made up of the panel constituents. Ready to promote to version 1.

19 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: GRM1 was added gene: GRM1 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: GRM1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GRM1 were set to Spinocerebellar ataxia, autosomal recessive 13