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DDG2P

Gene: GABRB3

Green List (high evidence)

GABRB3 (gamma-aminobutyric acid type A receptor beta3 subunit)
EnsemblGeneIds (GRCh38): ENSG00000166206
EnsemblGeneIds (GRCh37): ENSG00000166206
OMIM: 137192, Gene2Phenotype
GABRB3 is in 6 panels

1 review

Rebecca Foulger (Genomics England curator)

I don't know

Original DDG2P rating: confirmed (for all listed disorders). DDG2P mode of pathogenicity for both disorders: all missense/in frame.
Created: 19 Nov 2018, 11:29 a.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • EPILEPTIC ENCEPHALOPATHIES
  • CHILDHOOD ABSENCE EPILEPSY TYPE 5 612269
OMIM
137192
Clinvar variants
Variants in GABRB3
Penetrance
None
Publications
Mode of Pathogenicity
Other - please provide details in the comments
Panels with this gene

History Filter Activity

29 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: confirm

19 Nov 2018, Gel status: 4

Set Phenotypes, Set publications

Rebecca Foulger (Genomics England curator)

Added phenotypes EPILEPTIC ENCEPHALOPATHIES for gene: GABRB3 Publications for gene GABRB3 were changed from 18514161 to 23934111; 27476654

19 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: GABRB3 was added gene: GABRB3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GABRB3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GABRB3 were set to 18514161 Phenotypes for gene: GABRB3 were set to CHILDHOOD ABSENCE EPILEPSY TYPE 5 612269 Mode of pathogenicity for gene: GABRB3 was set to Other - please provide details in the comments