Mosaic skin disorders - deep sequencing
Gene: RHOA

RHOA (ras homolog family member A)
EnsemblGeneIds (GRCh38): ENSG00000067560
EnsemblGeneIds (GRCh37): ENSG00000067560
OMIM: 165390, Gene2Phenotype
RHOA is in 3 panels

1 review

Tom Cullup (Great Ormond Street Hospital)

Green List (high evidence)

c.139G>A (Glu47Lys) - x2, c.211C>T p.(Pro71Ser). Mosaicism 2-30%
Created: 5 Dec 2019, 3:40 p.m. | Last Modified: 5 Dec 2019, 3:40 p.m.

Panel Version: 0.16

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Blaschko-linear hypopigmentation syndrome

Publications

31570889

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments

Created: 5 Dec 2019, 3:40 p.m.
Last Modified: 5 Dec 2019, 3:40 p.m.
Panel version: 0.16

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green

Phenotypes

Blaschko-linear hypopigmentation syndrome

OMIM

165390

Clinvar variants

Variants in RHOA

Penetrance

None

Publications

31570889

Panels with this gene

History Filter Activity

5 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Catherine Snow (Genomics England)

gene: RHOA was added gene: RHOA was added to Mosaic skin disorders - deep sequencing. Sources: Expert Review Green 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

Mosaic skin disorders - deep sequencing Gene: RHOA