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  3. GABBR2
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Cerebral Palsy

Gene: GABBR2

Red List (low evidence)
GABBR2 (gamma-aminobutyric acid type B receptor subunit 2)
EnsemblGeneIds (GRCh38): ENSG00000136928
EnsemblGeneIds (GRCh37): ENSG00000136928
OMIM: 607340, Gene2Phenotype
GABBR2 is in 6 panels

1 review

Clare van Eyk (University of Adelaide)

I don't know

1 individual with mono-allelic LP missense variant and cerebral palsy reported in large-scale exome sequencing study. Detailed clinical information not provided.
Sources: Literature
Created: 27 May 2024, 5:43 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Developmental and epileptic encephalopathy 59, MIM#617904; Neurodevelopmental disorder with poor language and loss of hand skills, MIM#617903

Publications

Created: 27 May 2024, 5:43 a.m.

Panel version: 1.193

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
Phenotypes
  • Developmental and epileptic encephalopathy 59, MIM#617904
  • Neurodevelopmental disorder with poor language and loss of hand skills, MIM#617903
OMIM
607340
Clinvar variants
Variants in GABBR2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 May 2024, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gabbr2 has been classified as Red List (Low Evidence).

30 May 2024, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gabbr2 has been classified as Red List (Low Evidence).

27 May 2024, Gel status: 0

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

Clare van Eyk (University of Adelaide)

gene: GABBR2 was added gene: GABBR2 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: GABBR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GABBR2 were set to PMID: 38693247 Phenotypes for gene: GABBR2 were set to Developmental and epileptic encephalopathy 59, MIM#617904; Neurodevelopmental disorder with poor language and loss of hand skills, MIM#617903 Review for gene: GABBR2 was set to AMBER