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Intellectual disability syndromic and non-syndromic

Gene: GABRG1

Red List (low evidence)

GABRG1 (gamma-aminobutyric acid type A receptor gamma1 subunit)
EnsemblGeneIds (GRCh38): ENSG00000163285
EnsemblGeneIds (GRCh37): ENSG00000163285
OMIM: 137166, Gene2Phenotype
GABRG1 is in 3 panels

2 reviews

Anna Ritchie (Victorian Clinical Genetics Services)

Red List (low evidence)

2-year-old patient with epileptic encephalopathy, hypotonia, and global developmental delays. Clinical trio exome sequencing showed a novel, de novo missense variant in the GABRG1 gene.
Created: 6 Oct 2022, 3:44 a.m. | Last Modified: 6 Oct 2022, 3:44 a.m.
Panel Version: 0.4970

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Developmental and epileptic encephalopathy MONDO:0100062

Publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

No evidence for Mendelian gene-disease association.
Created: 3 Dec 2019, 11:19 p.m. | Last Modified: 3 Dec 2019, 11:19 p.m.
Panel Version: 0.251

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Genetic Health Queensland
Phenotypes
  • Developmental and epileptic encephalopathy MONDO:0100062
OMIM
137166
Clinvar variants
Variants in GABRG1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Oct 2022, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: GABRG1 were changed from to Developmental and epileptic encephalopathy MONDO:0100062

6 Oct 2022, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: GABRG1 were set to

6 Oct 2022, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: GABRG1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

3 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gabrg1 has been classified as Red List (Low Evidence).

3 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gabrg1 has been classified as Red List (Low Evidence).

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GABRG1 was added gene: GABRG1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: GABRG1 was set to Unknown