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Fetal anomalies

Gene: RHOA

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

4 reviews

Ida Ertmanska (Genomics England Curator)

This gene and phenotype were reviewed during meetings in July and August 2026. The meetings included representatives of the North Thames and Central and South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Louise Carr (North Thames GLH), Sarah Graham & Elizabeth Young (Central & South GLH), and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Sunayna Best, Soo-Mi Park & Tessa Homfray (R21 Clinical Oversight Group).
Created: 29 Oct 2026, 4:13 p.m. | Last Modified: 29 Oct 2026, 4:13 p.m.
Panel Version: 8.26
Created: 29 Oct 2026, 4:13 p.m.
Last Modified: 29 Oct 2026, 4:13 p.m.
Panel version: 8.26

Tessa Homfray (Consultant HNS)

Green List (high evidence)

The RHOA gene (Ras homolog family member A) encodes a small signaling protein (a GTPase) that helps control basic cell tasks like movement, cell shape, and internal skeleton structure.Pathogenic variants in RHOA are reported in ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies and hemihyperplasia, isolated. RHOA is also associated with linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies, T-cell non-Hodgkin lymphoma, and vascular disease, and overexpression has been linked to tumor cell proliferation and metastasis. This variant has been reported with somatic mosaicism. There has been one paper and a case from Birmingham.
Created: 29 Oct 2026, 3:51 p.m. | Last Modified: 29 Oct 2026, 3:51 p.m.
Panel Version: 8.25

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies, OMIM:618727

Publications

Created: 29 Oct 2026, 3:51 p.m.
Last Modified: 29 Oct 2026, 3:51 p.m.
Panel version: 8.25

Achchuthan Shanmugasundram (Genomics England Curator)

This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group.
Created: 29 Aug 2024, 8:33 p.m. | Last Modified: 29 Aug 2024, 8:33 p.m.
Panel Version: 4.36
Created: 29 Aug 2024, 8:33 p.m.
Last Modified: 29 Aug 2024, 8:33 p.m.
Panel version: 4.36

Esther Kinning (NHS Greater Glasgow and Clyde)

I don't know

Case idenitifed by reanalysis of exome data by Birmingham team. Green on structural eye disease & mosaic skin panels. Mosaic variants ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies, somatic mosaic. Need more evidence of prenatal phenotype.
Created: 29 Aug 2024, 8:07 p.m. | Last Modified: 29 Aug 2024, 8:07 p.m.
Panel Version: 4.35

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies, somatic mosaic, OMIM:618727

Created: 29 Aug 2024, 8:07 p.m.
Last Modified: 29 Aug 2024, 8:07 p.m.
Panel version: 4.35

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Amber
Phenotypes
  • Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies, OMIM:618727
Tags
Q3_26_promote_green
OMIM
165390
Clinvar variants
Variants in RHOA
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Nov 2026, Gel status: 2

Added Tag

Ida Ertmanska (Genomics England Curator)

Tag Q3_26_promote_green tag was added to gene: RHOA.

2 Nov 2026, Gel status: 2

Set Phenotypes

Ida Ertmanska (Genomics England Curator)

Phenotypes for gene: RHOA were changed from Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies, somatic mosaic, OMIM:618727; Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies, OMIM:618727 to Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies, OMIM:618727

29 Oct 2026, Gel status: 2

Set Phenotypes, Set publications

Ida Ertmanska (Genomics England Curator)

Added phenotypes Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies, OMIM:618727 for gene: RHOA Publications for gene: RHOA were updated from to 41153384

29 Aug 2024, Gel status: 2

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: RHOA was added gene: RHOA was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: RHOA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: RHOA were set to Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies, somatic mosaic, OMIM:618727