ADH5

alcohol dehydrogenase 5 (class III), chi polypeptide
OMIM: 103710, Gene2Phenotype

1 panel

Panel Reviews Mode of inheritance Details
1 panel
Amber ADH5 in Rare anaemia


Level 2: Haematology
Version 4.2
Latest signed off version: v4.0 (6 May 2026)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Aplastic anaemia
  • Mental retardation
  • Skin hyperpigmentation, Short stature
  • Microcephaly
Tags
  • digenic