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Inborn errors of metabolism

Gene: GABRG2

Green List (high evidence)

GABRG2 (gamma-aminobutyric acid type A receptor gamma2 subunit)
EnsemblGeneIds (GRCh38): ENSG00000113327
EnsemblGeneIds (GRCh37): ENSG00000113327
OMIM: 137164, Gene2Phenotype
GABRG2 is in 8 panels

1 review

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Comment when marking as ready: Associated with phenotypes in OMIM and as a probable Developmental Disorder Gene / G2P for Epilepsy, generalized, with febrile seizures plus, type 3 611277. At least 3 variants reported in at least 3 cases of Epilepsy, generalized, with febrile seizures plus, type 3 611277, together with supportive in vitro studies and at least 2 variants reported in at least two cases of {Epilepsy, childhood absence, susceptibility to, 2} 607681, together with supportive in vitro studies.
Created: 23 Jan 2017, 12:36 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Febrile seizures, familial, 8 611277
  • Epilepsy, generalized, with febrile seizures plus, type 3 611277
  • {Epilepsy, childhood absence, susceptibility to, 2} 607681
OMIM
137164
Clinvar variants
Variants in GABRG2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Checked against super panel made up of the panel constituents. Ready to promote to version 1.

16 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: GABRG2 was added gene: GABRG2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: GABRG2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GABRG2 were set to 23708187; 16510738; 15342642 Phenotypes for gene: GABRG2 were set to Febrile seizures, familial, 8 611277; Epilepsy, generalized, with febrile seizures plus, type 3 611277; {Epilepsy, childhood absence, susceptibility to, 2} 607681