Cerebral Palsy
Gene: GABRB1EnsemblGeneIds (GRCh38): ENSG00000163288
EnsemblGeneIds (GRCh37): ENSG00000163288
OMIM: 137190, Gene2Phenotype
GABRB1 is in 4 panels
1 review
Luisa Weiss (University of Adelaide)
One large cohort study on CP patients from Iran presents one patient with a heterozygous mutation in GABRB1 and atypical CP with developmental delay, ID and microcephaly. The patient's mutation (NM_000812:c.1243G>C,p.G415R) is present in a heterozygous state in the patient and no information about inheritance is given. The authors propose a recessively inherited disease. The variant is classified as a variant of unknown significance in this paper.
Sources: LiteratureCreated: 29 May 2023, 11:26 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Developmental and epileptic encephalopathy MIM#617153
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Phenotypes
-
- Developmental and epileptic encephalopathy MIM#617153
- OMIM
- 137190
- Clinvar variants
- Variants in GABRB1
- 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: gabrb1 has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: gabrb1 has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Luisa Weiss (University of Adelaide)gene: GABRB1 was added gene: GABRB1 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: GABRB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GABRB1 were set to 34540776 Phenotypes for gene: GABRB1 were set to Developmental and epileptic encephalopathy MIM#617153 Review for gene: GABRB1 was set to RED