ADCY6

adenylate cyclase 6
OMIM: 600294, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green ADCY6 in Arthrogryposis


Level 2: Neurology
Version 9.24
Latest signed off version: v9.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Lethal congenital contracture syndrome 8, OMIM:616287
  • Lethal congenital contracture syndrome 8, MONDO:0014570
Green ADCY6 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.140
Latest signed off version: v6.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Lethal congenital contracture syndrome 8, OMIM:616287
  • MONDO:0014570
Green ADCY6 in Hereditary neuropathy or pain disorder


Level 2: Neurology
Version 7.36
Latest signed off version: v7.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Expert list
Phenotypes
  • Lethal congenital contracture syndrome 8, OMIM:616287
  • lethal congenital contracture syndrome 8, MONDO:0014570