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Prepair 1000+

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

Ee Ming Wong (Victorian Clinical Genetics Services)

Green List (high evidence)

- Neurologic disorder characterized by delayed psychomotor development beginning in infancy. Affected individuals show mildly to profoundly impaired intellectual development with poor or absent speech as well as gait and stance ataxia and hyperreflexia. Most individuals also have eye movement abnormalities. Brain MRI shows cerebellar atrophy and ventriculomegaly
Created: 20 Nov 2024, 12:22 a.m. | Last Modified: 20 Nov 2024, 12:22 a.m.
Panel Version: 1.553

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spinocerebellar ataxia, autosomal recessive 13, 614831

Publications

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

Created: 20 Nov 2024, 12:22 a.m.
Last Modified: 20 Nov 2024, 12:22 a.m.
Panel version: 1.553

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 13, 614831 (3)
OMIM
604473
Clinvar variants
Variants in GRM1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Nov 2024, Gel status: 3

Entity classified by Genomics England curator

Lilian Downie (Victorian Clinical Genetics Services)

Gene: grm1 has been classified as Green List (High Evidence).

28 Nov 2024, Gel status: 3

Set publications

Lilian Downie (Victorian Clinical Genetics Services)

Publications for gene: GRM1 were set to 22901947; 26308914; 31319223

28 Nov 2024, Gel status: 3

Set publications

Lilian Downie (Victorian Clinical Genetics Services)

Publications for gene: GRM1 were set to

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GRM1 was added gene: GRM1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,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, 614831 (3)