Speech apraxia
Gene: GNB1EnsemblGeneIds (GRCh38): ENSG00000078369
EnsemblGeneIds (GRCh37): ENSG00000078369
OMIM: 139380, Gene2Phenotype
GNB1 is in 9 panels
1 review
Thomas Scerri (Murdoch Children's Research Institute)
First reported CAS proband with a de novo GNB1 nonsense variant (Hildebrand et al., 2020; PMID: 32345733).
Sources: Expert list, Expert ReviewCreated: 25 Jun 2024, 10:05 a.m. | Last Modified: 1 Jul 2024, 10:37 a.m.
Panel Version: 0.38
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Intellectual developmental disorder, autosomal dominant 42, MIM# 616973
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Phenotypes
-
- Intellectual developmental disorder, autosomal dominant 42, MIM# 616973
- OMIM
- 139380
- Clinvar variants
- Variants in GNB1
- 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: gnb1 has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: gnb1 has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Thomas Scerri (Murdoch Children's Research Institute)gene: GNB1 was added gene: GNB1 was added to Speech apraxia. Sources: Expert list,Expert Review Mode of inheritance for gene: GNB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GNB1 were set to 32345733 Phenotypes for gene: GNB1 were set to Intellectual developmental disorder, autosomal dominant 42, MIM# 616973 Review for gene: GNB1 was set to RED