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Additional findings_Paediatric

Gene: GABRG2

Amber List (moderate evidence)
GABRG2 (gamma-aminobutyric acid type A receptor gamma2 subunit)
EnsemblGeneIds (GRCh38): ENSG00000113327
EnsemblGeneIds (GRCh37): ENSG00000113327
OMIM: 137164, Gene2Phenotype
GABRG2 is in 7 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Comment when marking as ready: Molecular diagnosis even in the milder phenotypes has the potential to reduce the need for investigations.
Created: 6 Oct 2020, 9:57 a.m. | Last Modified: 6 Oct 2020, 9:57 a.m.
Panel Version: 0.121
Created: 6 Oct 2020, 9:57 a.m.
Last Modified: 6 Oct 2020, 9:57 a.m.
Panel version: 0.121

Lilian Downie (Victorian Clinical Genetics Services)

I don't know

Rated as 'C' by Babyseq, definitive gene disease association for phenotype of abscence and febrile seizures but moderate penetrance and non actionable. Single paper (see PMID) regarding association with EE and more severe phenotype.
Created: 6 Oct 2020, 3:09 a.m. | Last Modified: 6 Oct 2020, 3:09 a.m.
Panel Version: 0.106

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Epilepsy, generalized, with febrile seizures plus, type 3 MIM# 607681; Epileptic encephalopathy, early infantile, 74 MIM# 618396; Febrile seizures, familial, 8 MIM# 607681

Publications

Created: 6 Oct 2020, 3:09 a.m.
Last Modified: 6 Oct 2020, 3:09 a.m.
Panel version: 0.106

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • BabySeq Category C gene
Phenotypes
  • Epilepsy, generalized, with febrile seizures plus, type 3 MIM# 607681
  • Epileptic encephalopathy, early infantile, 74 MIM# 618396
  • Febrile seizures, familial, 8 MIM# 607681
OMIM
137164
Clinvar variants
Variants in GABRG2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Oct 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gabrg2 has been classified as Amber List (Moderate Evidence).

6 Oct 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: GABRG2 were changed from vEpilepsy, generalized, with febrile seizures plus, type 3 MIM# 607681; Epileptic encephalopathy, early infantile, 74 MIM# 618396; Febrile seizures, familial, 8 MIM# 607681 to Epilepsy, generalized, with febrile seizures plus, type 3 MIM# 607681; Epileptic encephalopathy, early infantile, 74 MIM# 618396; Febrile seizures, familial, 8 MIM# 607681

6 Oct 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: GABRG2 were changed from Epilepsy, childhood absence with febrile seizure to vEpilepsy, generalized, with febrile seizures plus, type 3 MIM# 607681; Epileptic encephalopathy, early infantile, 74 MIM# 618396; Febrile seizures, familial, 8 MIM# 607681

6 Oct 2020, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: GABRG2 were set to

6 Oct 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gabrg2 has been classified as Amber List (Moderate Evidence).

27 Aug 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GABRG2 was added gene: GABRG2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: GABRG2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: GABRG2 were set to Epilepsy, childhood absence with febrile seizure