Cerebral Palsy
Gene: RARBEnsemblGeneIds (GRCh38): ENSG00000077092
EnsemblGeneIds (GRCh37): ENSG00000077092
OMIM: 180220, Gene2Phenotype
RARB is in 9 panels
1 review
Clare van Eyk (University of Adelaide)
1 individual reported with phenotype mimicking CP and recurrent p.Leu213Pro GOF variant in RARB. GOF variants in RARB are associated with severe global developmental delay with progressive motor impairment due to spasticity and/or dystonia (with or without chorea). Biallelic truncating variants also reported to cause microphthalmia and diaphragmatic hernia.
Sources: LiteratureCreated: 26 Jun 2024, 3:49 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Microphthalmia, syndromic 12, MIM#615524
Publications
- PMID: 38168508
Mode of pathogenicity
Other
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Phenotypes
-
- Microphthalmia, syndromic 12, MIM#615524
- OMIM
- 180220
- Clinvar variants
- Variants in RARB
- Penetrance
- None
- Publications
-
- PMID: 38168508
- Mode of Pathogenicity
- Other
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: rarb has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: rarb has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity
Clare van Eyk (University of Adelaide)gene: RARB was added gene: RARB was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: RARB was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: RARB were set to PMID: 38168508 Phenotypes for gene: RARB were set to Microphthalmia, syndromic 12, MIM#615524 Mode of pathogenicity for gene: RARB was set to Other Review for gene: RARB was set to RED