RHOA

ras homolog family member A
OMIM: 165390, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green RHOA in Anophthalmia_Microphthalmia_Coloboma


Level 2: Ophthalmological disorders
Version 1.39

review Other
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • normal cognition
  • leukoencephalopathy
  • micro-ophthalmia
  • strabismus
  • linear hypopigmentation
  • malar hypoplasia
  • downslanting palpebral fissures
  • microstomia
Tags
  • somatic

Green RHOA in Mendeliome


Version 1.1891

review Other
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • normal cognition
  • leukoencephalopathy
  • micro-ophthalmia
  • strabismus
  • linear hypopigmentation
  • malar hypoplasia
  • downslanting palpebral fissures
  • microstomia
  • dental anomalies
  • body asymmetry
  • limb length discrepancy
Tags
  • somatic

Green RHOA in Mosaic skin disorders


Level 2: Dermatological disorders
Version 1.12

Component of the following Super Panels:

  • Vascular Malformations SuperPanel
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • NHS GMS
    Phenotypes
    • Blaschko-linear hypopigmentation syndrome
    Tags
    • somatic