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Genetic epilepsy syndromes

Gene: GRM7

No list

GRM7 (glutamate metabotropic receptor 7)
EnsemblGeneIds (GRCh38): ENSG00000196277
EnsemblGeneIds (GRCh37): ENSG00000196277
OMIM: 604101, Gene2Phenotype
GRM7 is in 2 panels

1 review

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Epilepsy, microcephaly, developmental delay
OMIM
604101
Clinvar variants
Variants in GRM7
Penetrance
None
Publications
Panels with this gene

History Filter Activity

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