1. Genes and Genomic Entities
  2. ADH5

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


Version 3.8
Latest signed off version: v3.0 (22 Mar 2023)

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