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 10.17
Latest signed off version: v10.16 (12 Aug 2026)

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 8.1
Latest signed off version: v8.0 (12 Aug 2026)

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 8.31
Latest signed off version: v8.30 (12 Aug 2026)

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