ADAM23

ADAM metallopeptidase domain 23
OMIM: 603710, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber ADAM23 in Mendeliome


Version 1.3741

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Neonatal-onset developmental and epileptic encephalopathy, MONDO:0100455, ADAM23-related

Amber ADAM23 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.303

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Neonatal-onset developmental and epileptic encephalopathy, MONDO:0100455, ADAM23-related

    Amber ADAM23 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.486

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Neonatal-onset developmental and epileptic encephalopathy, MONDO:0100455, ADAM23-related