SIDT2

SID1 transmembrane family member 2
OMIM: 617551, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Amber SIDT2 in Mendeliome


Version 1.3741

1 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 1.24

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • 1 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 0.600

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

    Amber SIDT2 in Ataxia


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.153

    Component of the following Super Panels:

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