ADAM22

ADAM metallopeptidase domain 22
OMIM: 603709, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green ADAM22 in DDG2P


Version 6.424
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • ADAM22-associated developmental and epileptic encephalopathy
    Amber ADAM22 in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 8.125
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • ?Epileptic encephalopathy, early infantile, 61 OMIM:617933
    • developmental and epileptic encephalopathy, 61 MONDO:0033370
    Tags
    • watchlist
    Green ADAM22 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.285
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • ?Epileptic encephalopathy, early infantile, 61 OMIM:617933
    • developmental and epileptic encephalopathy, 61 MONDO:0033370