Cerebral Palsy
Gene: GNB1EnsemblGeneIds (GRCh38): ENSG00000078369
EnsemblGeneIds (GRCh37): ENSG00000078369
OMIM: 139380, Gene2Phenotype
GNB1 is in 9 panels
2 reviews
Clare van Eyk (University of Adelaide)
1 addtional individual with mutation of the p.Ile80 residue and cerebral palsy reported in large-scale exome sequencing study. Detailed clinical information not provided.Created: 27 May 2024, 5:59 a.m. | Last Modified: 27 May 2024, 5:59 a.m.
Panel Version: 1.193
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Intellectual developmental disorder, autosomal dominant 42 MIM# 616973
Publications
- PMID: 38693247
Danielle Ariti (University of Melbourne)
4 individuals in CP cohort reported with mono-allelic (3x de novo & 1x unknown inheritance) GNB1 variants. All individuals presented with impaired movement (dystonia, spasticity) and ID; additional features were growth delay, ADHD and seizures.
Additionally, all individuals had substitution affecting the p.Ile80 residue in exon 6 (28% of MRD42 cases carry variants at this residue and tend to present with Dystonia and growth delay more frequently than other residue-variant cases)
Sources: Expert listCreated: 23 Sep 2021, 1:42 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cerebral Palsy; Mental retardation, autosomal dominant 42 MIM# 616973
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Phenotypes
-
- Cerebral Palsy
- Mental retardation, 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 Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: gnb1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Danielle Ariti (University of Melbourne)gene: GNB1 was added gene: GNB1 was added to Cerebral Palsy. Sources: Expert list Mode of inheritance for gene: GNB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GNB1 were set to 33528536; 32989326; 34531397; 30194818 Phenotypes for gene: GNB1 were set to Cerebral Palsy; Mental retardation, autosomal dominant 42 MIM# 616973 Review for gene: GNB1 was set to GREEN