Structural eye disease
Gene: RHOAEnsemblGeneIds (GRCh38): ENSG00000067560
EnsemblGeneIds (GRCh37): ENSG00000067560
OMIM: 165390, Gene2Phenotype
RHOA is in 3 panels
5 reviews
Arina Puzriakova (Genomics England Curator)
The rating of this gene has been updated to Green and the mode of inheritance set to 'MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown' following NHS Genomic Medicine Service approval.Created: 2 May 2024, 1:56 p.m. | Last Modified: 2 May 2024, 1:56 p.m.
Panel Version: 3.79
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sarah Leigh (Genomics England Curator)
RHOA variants have been associated with ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies, somatic mosaic (OMIM:618727). Ocular involvement has been reported at least three unrelated cases carrying different RHOA variants (PMID: 31821646; 31570889; 35178721).Created: 31 Oct 2023, 12:53 p.m. | Last Modified: 31 Oct 2023, 12:53 p.m.
Panel Version: 3.56
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.Created: 31 Oct 2023, 12:41 p.m. | Last Modified: 31 Oct 2023, 12:41 p.m.
Panel Version: 3.56
Hannah Knight (NIHR BioResource - University of Cambridge)
PMID: 35178721 - case report of one patient with condition, presenting with right microphthalmia among other features. Mosaic missense mutation identified on skin biopsyCreated: 18 Sep 2023, 2:29 p.m. | Last Modified: 18 Sep 2023, 2:29 p.m.
Panel Version: 3.4
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies
Publications
Ivone Leong (Genomics England Curator)
Comment on list classification: New gene added by Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust). Based on the available evidence this gene has been given an Amber rating.Created: 20 Jan 2021, 10:40 a.m. | Last Modified: 20 Jan 2021, 10:40 a.m.
Panel Version: 1.34
Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)
Yigit et al. describes one patient with bil. Anterior segment dysgenesis & cong. Cataract, and another one with differentially sized eyes among 4 with the same mosaic RHOA p.Glu47Lys variant. Vabres et al. describes one patient with microphthalmia and two additional patients with congenital cataract among six with mosaic variants in RHOA (5 with p.Glu47Lys). Two families with AMC - amberCreated: 20 Jan 2021, 10:29 a.m. | Last Modified: 20 Jan 2021, 10:29 a.m.
Panel Version: 1.29
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies, somatic mosaic, MIM:618727
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- NHS GMS
- Expert list
- Phenotypes
-
- ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies, MONDO:0032884
- Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies, somatic mosaic, OMIM:618727
- Tags
- OMIM
- 165390
- Clinvar variants
- Variants in RHOA
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Removed Tag, Removed Tag
Arina Puzriakova (Genomics England Curator)Tag Q4_23_promote_green was removed from gene: RHOA. Tag Q4_23_NHS_review was removed from gene: RHOA.
Added New Source, Added New Source, Status Update
Arina Puzriakova (Genomics England Curator)Source NHS GMS was added to RHOA. Source Expert Review Green was added to RHOA. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Removed Tag, Added Tag, Added Tag, Added Tag
Sarah Leigh (Genomics England Curator)Tag watchlist was removed from gene: RHOA. Tag mosaicism tag was added to gene: RHOA. Tag Q4_23_promote_green tag was added to gene: RHOA. Tag Q4_23_NHS_review tag was added to gene: RHOA.
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: rhoa has been classified as Amber List (Moderate Evidence).
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: RHOA were set to 31821646; 31570889
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: rhoa has been classified as Amber List (Moderate Evidence).
Added Tag
Ivone Leong (Genomics England Curator)Tag watchlist tag was added to gene: RHOA.
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: RHOA was added gene: RHOA was added to Structural eye disease. Sources: Expert list Mode of inheritance for gene: RHOA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RHOA were set to 31821646; 31570889 Phenotypes for gene: RHOA were set to ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies, MONDO:0032884; Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies, somatic mosaic, OMIM:618727