KCNA5

potassium voltage-gated channel subfamily A member 5
OMIM: 176267, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Red KCNA5 in Familial Meniere Disease

Level 3: Other hearing and ear disorders
Level 2: Hearing and ear disorders
Version 1.3

review Not set
Sources
  • Literature
Amber KCNA5 in Primary immunodeficiency or monogenic inflammatory bowel disease


Version 4.202
Latest signed off version: v4.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert Review
  • Literature
Phenotypes
  • early-onset pulmonary and cutaneous vasculitis, MONDO:0800137
Red KCNA5 in Pulmonary arterial hypertension

Level 3: Pulmonary heart disease
Level 2: Cardiovascular disorders
Version 3.5
Latest signed off version: v3.0 (30 Nov 2022)

review Unknown
Sources
  • Literature
Phenotypes
  • Idiopathic pulmonary arterial hypertension
  • IPAH