SIDT2

SID1 transmembrane family member 2
OMIM: 617551, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Amber SIDT2 in Mendeliome


Version 1.2899

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Lysosomal storage disease, MONDO:0002561, SIDT2-related

Amber SIDT2 in Lysosomal Storage Disorder


Level 2: Metabolic conditions
Version 1.19

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Lysosomal storage disease, MONDO:0002561, SIDT2-related

    Amber SIDT2 in Regression


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.583

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Lysosomal storage disease, MONDO:0002561, SIDT2-related

    Amber SIDT2 in Ataxia - paediatric


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.46

    Component of the following Super Panels:

  • Ataxia_Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Lysosomal storage disease, MONDO:0002561, SIDT2-related