1. Genes and Genomic Entities
  2. SAMD12

SAMD12

sterile alpha motif domain containing 12
Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Amber SAMD12 in Early onset or syndromic epilepsy

Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 5.6
Latest signed off version: v5.0 (1 May 2024)

Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Epilepsy, familial adult myoclonic, 1, OMIM:601068
    • epilepsy, familial adult myoclonic, 1, MONDO:0010985
    Tags
    • STR
    Green SAMD12 in Severe Paediatric Disorders


    Version 1.184

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Epilepsy, familial adult myoclonic, 1, 601068