SORBS2

sorbin and SH3 domain containing 2
OMIM: 616349, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber SORBS2 in Early-onset Dementia


Level 2: Neurology and neurodevelopmental disorders
Version 2.10

Component of the following Super Panels:

  • Neurodegenerative disease - adult onset
  • Progressive Neurological Conditions
  • 1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Literature
    • Expert Review Amber
    • Expert Review Amber
    • Literature
    Phenotypes
    • congenital heart disease MONDO:0005453, SORBS2-related
    • familial Alzheimer disease MONDO:0100087, SORBS2-related

    Amber SORBS2 in Congenital Heart Defect


    Level 2: Cardiovascular disorders
    Version 1.10

    1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Literature
    • Expert Review Amber
    • Expert Review Amber
    • Literature
    Phenotypes
    • congenital heart disease MONDO:0005453, SORBS2-related
    • familial Alzheimer disease MONDO:0100087, SORBS2-related

    Amber SORBS2 in Mendeliome


    Version 2.268

    1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • congenital heart disease MONDO:0005453, SORBS2-related
    • familial Alzheimer disease MONDO:0100087, SORBS2-related