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Genetic Epilepsy

Gene: GABBR1

Red List (low evidence)

GABBR1 (gamma-aminobutyric acid type B receptor subunit 1)
EnsemblGeneIds (GRCh38): ENSG00000204681
EnsemblGeneIds (GRCh37): ENSG00000204681
OMIM: 603540, Gene2Phenotype
GABBR1 is in 3 panels

2 reviews

Karina Sandoval (Victorian Clinical Genetics Services)

Red List (low evidence)

GABBR1 should be Red for Genetic Epilepsy panel as only 1 patient out of the 4 presented with seizures.

In addition PMID:36103875 stated it was surprising another individual in the study with p.Gly673Asp, causing a complete loss of GBR function did NOT suffer from seizures.
Created: 6 Oct 2022, 7:13 a.m. | Last Modified: 6 Oct 2022, 7:13 a.m.
Panel Version: 0.1693
4 de novo individuals with dev and language delays of varying severities associated with hyptonia, intellectual disability. 2 also with sleep disorder, and 1 with epilepsy.
Common phenotypes with differing disease severity and in associated neurodevelopmental disorders and comorbid psychiatric disorders.

Functional analyses reveal that all four variants produce dysfunctional receptors, supporting that these de novo variants are pathogenic.

4.5yo with p.Glu368Asp suffered from seizures, however paper also stated it was surprising that another individual in the study with p.Gly673Asp, causing a complete loss of GBR function did NOT suffer from seizures.
Created: 6 Oct 2022, 4:20 a.m. | Last Modified: 6 Oct 2022, 7:01 a.m.
Panel Version: 0.1693

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Neurodevelopmental disorder, GABBR1-related, MONDO:0700092

Publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Four individuals with de novo variants in this gene and varying severity of DD/ID, seizures and hypotonia.
Sources: Literature
Created: 6 Oct 2022, 4:15 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Neurodevelopmental disorder, GABBR1-related, MONDO:0700092

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with language delay and variable cognitive abnormalities, MIM#620502
OMIM
603540
Clinvar variants
Variants in GABBR1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Sep 2023, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: GABBR1 were changed from Neurodevelopmental disorder, GABBR1-related, MONDO:0700092 to Neurodevelopmental disorder with language delay and variable cognitive abnormalities, MIM#620502

6 Oct 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gabbr1 has been classified as Red List (Low Evidence).

6 Oct 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gabbr1 has been classified as Green List (High Evidence).

6 Oct 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gabbr1 has been classified as Green List (High Evidence).

6 Oct 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gabbr1 has been classified as Green List (High Evidence).

6 Oct 2022, Gel status: 0

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

Karina Sandoval (Victorian Clinical Genetics Services)

gene: GABBR1 was added gene: GABBR1 was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: GABBR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GABBR1 were set to PMID:36103875 Phenotypes for gene: GABBR1 were set to Neurodevelopmental disorder, GABBR1-related, MONDO:0700092