Cerebral Palsy
Gene: GABRB2EnsemblGeneIds (GRCh38): ENSG00000145864
EnsemblGeneIds (GRCh37): ENSG00000145864
OMIM: 600232, Gene2Phenotype
GABRB2 is in 9 panels
1 review
Luisa Weiss (University of Adelaide)
Two cases in a large CP cohort study with heterozygous de novo mutations in GABRB2.
Sources: LiteratureCreated: 29 May 2023, 11:49 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Developmental and epileptic encephalopathy MIM#617829
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Amber
- Phenotypes
-
- Developmental and epileptic encephalopathy MIM#617829
- OMIM
- 600232
- Clinvar variants
- Variants in GABRB2
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: gabrb2 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: gabrb2 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Luisa Weiss (University of Adelaide)gene: GABRB2 was added gene: GABRB2 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: GABRB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GABRB2 were set to 33528536 Phenotypes for gene: GABRB2 were set to Developmental and epileptic encephalopathy MIM#617829 Review for gene: GABRB2 was set to AMBER