ADH5:Ensemblv90

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

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green ADH5 in Bone Marrow Failure


Level 2: Haematological disorders
Version 1.131

Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • 2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • AMED syndrome, digenic, MIM# 619151
    • Aplastic anaemia
    • myelodysplasia
    • short stature

    Green ADH5 in Mendeliome


    Version 1.3802

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • AMED syndrome, digenic, MIM# 619151
    • Aplastic anaemia
    • myelodysplasia
    • short stature

    Green ADH5 in IBMDx study


    Version 0.38

    1 review Unknown
    Sources
    • Expert Review Green
    • IBMDx Study
    • Expert Review Green
    • Literature
    Phenotypes
    • AMED syndrome, digenic, MIM# 619151
    • short stature
    • Aplastic anaemia
    • myelodysplasia

    Green ADH5 in Bone Marrow Failure


    Level 2: Haematological disorders
    Version 2.0

    2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Literature
    • Expert Review Green
    Phenotypes
    • AMED syndrome, digenic, MIM# 619151
    • Aplastic anaemia
    • myelodysplasia
    • short stature

    Green ADH5 in IBMDx study


    Version 1.0

    1 review Unknown
    Sources
    • Literature
    • Expert Review Green
    • IBMDx Study
    • Expert Review Green
    Phenotypes
    • AMED syndrome, digenic, MIM# 619151
    • short stature
    • Aplastic anaemia
    • myelodysplasia