ELMSAN1

ELM2 and Myb/SANT domain containing 1
ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber ELMSAN1 in Arthrogryposis


Level 2: Neurology and neurodevelopmental disorders
Version 1.1

Component of the following Super Panels:

  • Neuromuscular Superpanel
  • 1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    • Literature
    Phenotypes
    • Neurodevelopmental disorder, MONDO:0700092, ELMSAN1-related
    Tags
    • new gene name

    Amber ELMSAN1 in Mendeliome


    Version 1.3793

    1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Neurodevelopmental disorder, MONDO:0700092, ELMSAN1-related
    Tags
    • new gene name

    Amber ELMSAN1 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.496

    1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    • Literature
    Phenotypes
    • Neurodevelopmental disorder, MONDO:0700092, ELMSAN1-related
    Tags
    • new gene name