Microcephaly
Gene: GABRB2EnsemblGeneIds (GRCh38): ENSG00000145864
EnsemblGeneIds (GRCh37): ENSG00000145864
OMIM: 600232, Gene2Phenotype
GABRB2 is in 9 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
Microcephaly has been reported in at least 13 individuals with gain of function variants.
Sources: LiteratureCreated: 30 Sep 2024, 9:02 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
epileptic encephalopathy, infantile or early childhood, 2 MONDO:0020631
Publications
Mode of pathogenicity
Other
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- epileptic encephalopathy, infantile or early childhood, 2 MONDO:0020631
- OMIM
- 600232
- Clinvar variants
- Variants in GABRB2
- Penetrance
- None
- Publications
- Mode of Pathogenicity
- Other
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: gabrb2 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: gabrb2 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity
Bryony Thompson (Royal Melbourne Hospital)gene: GABRB2 was added gene: GABRB2 was added to Microcephaly. Sources: Literature Mode of inheritance for gene: GABRB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GABRB2 were set to 38996765 Phenotypes for gene: GABRB2 were set to epileptic encephalopathy, infantile or early childhood, 2 MONDO:0020631 Mode of pathogenicity for gene: GABRB2 was set to Other Review for gene: GABRB2 was set to GREEN gene: GABRB2 was marked as current diagnostic