Ataxia - paediatric
Gene: GRM1

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

1 review

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

For biallelic association: 1 founder mutation from 5 Bulgarian families of Roma Bowlmaker Gypsy origin + 2 more families

For monoallelic association: 3 families
Created: 4 Jan 2022, 12:46 a.m. | Last Modified: 4 Jan 2022, 12:46 a.m.

Panel Version: 0.10449

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
Spinocerebellar ataxia 44 MIM#617691; Spinocerebellar ataxia, autosomal recessive 13 MIM#614831

Publications

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

Created: 4 Jan 2022, 12:46 a.m.
Last Modified: 4 Jan 2022, 12:46 a.m.
Panel version: Imported from Mendeliome panel version 0.10449

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Royal Melbourne Hospital
Expert Review Green

Phenotypes

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

OMIM

604473

Clinvar variants

Variants in GRM1

Penetrance

None

Panels with this gene

History Filter Activity

19 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: GRM1 was added gene: GRM1 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital 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; Spinocerebellar ataxia 44, 617691, autosomal recessive spinocerebellar ataxia type 13, 614831

Ataxia - paediatric Gene: GRM1