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  3. GRM7
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Early onset or syndromic epilepsy

Gene: GRM7

Green List (high evidence)
GRM7 (glutamate metabotropic receptor 7)
EnsemblGeneIds (GRCh38): ENSG00000196277
EnsemblGeneIds (GRCh37): ENSG00000196277
OMIM: 604101, Gene2Phenotype
GRM7 is in 5 panels

3 reviews

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Created: 11 Oct 2023, 11:59 a.m. | Last Modified: 11 Oct 2023, 11:59 a.m.
Panel Version: 4.110

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 11 Oct 2023, 11:59 a.m.
Last Modified: 11 Oct 2023, 11:59 a.m.
Panel version: 4.110

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

Comment on list classification: There is sufficient evidence (6 unrelated cases and supporting mouse model) for this gene to be promoted to GREEN at the next major update.
Created: 6 Jun 2023, 3:40 p.m. | Last Modified: 6 Jun 2023, 3:40 p.m.
Panel Version: 4.48
PMID:32286009 reported eleven individuals from six unrelated families identified with three different biallelic variants and presenting with a neurodevelopmental disorder comprising severe to profound global developmental delays, intellectual disability, seizures, hypotonia, microcephaly and brain abnormalities. This is also supported by functional evidence from knockout mouse models, where absence of metabotropic glutamate receptor 7 alters the phenotypes within the domains of social behavior, associative learning, motor function, epilepsy and sleep (PMID:32248644).

This gene has also been associated with relevant phenotypes in both OMIM (MIM #618922) and in Gene2Phenotype (with 'strong' rating in the DD panel).
Created: 6 Jun 2023, 3:38 p.m. | Last Modified: 6 Jun 2023, 3:52 p.m.
Panel Version: 4.48

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neurodevelopmental disorder with seizures, hypotonia, and brain abnormalities, OMIM:618922

Publications

Created: 6 Jun 2023, 3:38 p.m.
Last Modified: 6 Jun 2023, 3:52 p.m.
Panel version: 4.46

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Eleven individuals from six families reported, three different homozygous variants (two missense, one LoF). Developmental delay, neonatal‐ or infantile‐onset epilepsy, and microcephaly were universal. Supportive mouse model.
Sources: Literature
Created: 4 Jun 2020, 11:13 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Epilepsy, microcephaly, developmental delay

Publications

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

Created: 4 Jun 2020, 11:13 a.m.

Panel version: 2.89

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Neurodevelopmental disorder with seizures, hypotonia, and brain abnormalities, OMIM:618922
OMIM
604101
Clinvar variants
Variants in GRM7
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Oct 2023, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag Q2_23_promote_green was removed from gene: GRM7.

11 Oct 2023, Gel status: 3

Added New Source, Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source NHS GMS was added to GRM7. Source Expert Review Green was added to GRM7. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

6 Jun 2023, Gel status: 2

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q2_23_promote_green tag was added to gene: GRM7.

6 Jun 2023, Gel status: 2

Entity classified by Genomics England curator

Achchuthan Shanmugasundram (Genomics England Curator)

Gene: grm7 has been classified as Amber List (Moderate Evidence).

6 Jun 2023, Gel status: 0

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: GRM7 were changed from Epilepsy, microcephaly, developmental delay to Neurodevelopmental disorder with seizures, hypotonia, and brain abnormalities, OMIM:618922

4 Jun 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: GRM7 was added gene: GRM7 was added to Genetic epilepsy syndromes. Sources: Literature Mode of inheritance for gene: GRM7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GRM7 were set to 32286009; 32248644 Phenotypes for gene: GRM7 were set to Epilepsy, microcephaly, developmental delay Review for gene: GRM7 was set to GREEN gene: GRM7 was marked as current diagnostic