RHOA

ras homolog family member A
OMIM: 165390, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green RHOA in Mosaic skin disorders - deep sequencing


Level 2: Dermatology
Version 3.27
Latest signed off version: v3.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Blaschko-linear hypopigmentation syndrome
Amber RHOA in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.140
Latest signed off version: v6.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Amber
Phenotypes
  • Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies, somatic mosaic, OMIM:618727
Green RHOA in Structural eye disease


Level 2: Ophthalmology
Version 4.37
Latest signed off version: v4.0 (7 Aug 2024)

review 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
  • mosaicism