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Intellectual disability syndromic and non-syndromic

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Maintain Green rating as ID reported in many. Also ataxia in infancy likely to manifest as developmental delay.
Created: 14 Nov 2024, 5:49 a.m. | Last Modified: 14 Nov 2024, 5:49 a.m.
Panel Version: 0.6743

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
autosomal recessive spinocerebellar ataxia 13 MONDO:0013905

Sangavi Sivagnanasundram (Melbourne Health)

I don't know

ID appears to be associated with AR GRM1-related ataxia however there are reports that ID may not be a prominent feature of GRM1-related ataxia.

PMID: 36675067: reports a family of Azerbaijani origin with a diagnosis of congenital cerebellar ataxia without any evidence of ID as well.
Created: 17 Sep 2024, 6 a.m. | Last Modified: 17 Sep 2024, 6 a.m.
Panel Version: 0.6222

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
autosomal recessive spinocerebellar ataxia 13 MONDO:0013905

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • autosomal recessive spinocerebellar ataxia 13 MONDO:0013905
OMIM
604473
Clinvar variants
Variants in GRM1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Nov 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

14 Nov 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: GRM1 were changed from to autosomal recessive spinocerebellar ataxia 13 MONDO:0013905

14 Nov 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: GRM1 were set to

14 Nov 2024, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: GRM1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GRM1 was added gene: GRM1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: GRM1 was set to Unknown