ADCY6

adenylate cyclase 6
OMIM: 600294, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green ADCY6 in Arthrogryposis


Level 2: Neurology and neurodevelopmental disorders
Version 0.411

Component of the following Super Panels:

  • Neuromuscular Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Lethal congenital contracture syndrome 8, OMIM # 616287
    • MONDO:0014570

    Green ADCY6 in Mendeliome


    Version 1.1891

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Lethal congenital contracture syndrome 8, OMIM # 616287
    • MONDO:0014570

    Green ADCY6 in Multiple pterygium syndrome_Fetal akinesia sequence


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.5

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Lethal congenital contracture syndrome 8, MIM# 616287
    • MONDO:0014570

    Green ADCY6 in Fetal anomalies


    Version 1.255

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    • Expert list
    Phenotypes
    • Lethal congenital contracture syndrome 8, MIM#616287
    • MONDO:0014570