Cerebral Palsy
Gene: RHOBEnsemblGeneIds (GRCh38): ENSG00000143878
EnsemblGeneIds (GRCh37): ENSG00000143878
OMIM: 165370, Gene2Phenotype
RHOB is in 2 panels
1 review
Crystle Lee (Victorian Clinical Genetics Services)
Candidate disease-causing gene for CP. Recurrent de novo missense variant reported in 2 unrelated families with supporting functional studies.
Sources: Expert ReviewCreated: 2 Nov 2020, 4:41 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Cerebral Palsy (PMID:32989326)
Publications
Mode of pathogenicity
Other
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Amber
- Phenotypes
-
- Cerebral Palsy (PMID:32989326)
- OMIM
- 165370
- Clinvar variants
- Variants in RHOB
- Penetrance
- None
- Publications
- Mode of Pathogenicity
- Other
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Seb Lunke (Victorian Clinical Genetics Services)Gene: rhob has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Seb Lunke (Victorian Clinical Genetics Services)Gene: rhob has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity
Crystle Lee (Victorian Clinical Genetics Services)gene: RHOB was added gene: RHOB was added to Cerebral Palsy. Sources: Expert Review Mode of inheritance for gene: RHOB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RHOB were set to 32989326 Phenotypes for gene: RHOB were set to Cerebral Palsy (PMID:32989326) Mode of pathogenicity for gene: RHOB was set to Other Review for gene: RHOB was set to AMBER