Mosaic skin disorders
Gene: RHOAEnsemblGeneIds (GRCh38): ENSG00000067560
EnsemblGeneIds (GRCh37): ENSG00000067560
OMIM: 165390, Gene2Phenotype
RHOA is in 3 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Blaschko-linear hypopigmentation syndrome
Mathew Wallis (Tasmanian Clinical Genetics Service)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications
- PMID: 31570889
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Genomics England PanelApp
- NHS GMS
- Phenotypes
-
- Blaschko-linear hypopigmentation syndrome
- Tags
- OMIM
- 165390
- Clinvar variants
- Variants in RHOA
- 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: rhoa has been classified as Green List (High Evidence).
Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag somatic tag was added to gene: RHOA.
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: RHOA was added gene: RHOA was added to Mosaic skin disorders. Sources: Expert Review Green,NHS GMS,Genomics England PanelApp Mode of inheritance for gene: RHOA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RHOA were set to 31570889 Phenotypes for gene: RHOA were set to Blaschko-linear hypopigmentation syndrome