SUPV3L1

Suv3 like RNA helicase
OMIM: 605122, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Amber SUPV3L1 in Mendeliome


Version 1.3802

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
  • Literature
Phenotypes
  • Mitochondrial disease, MONDO:0044970

Amber SUPV3L1 in Optic Atrophy


Level 2: Ophthalmological disorders
Version 1.65

Component of the following Super Panels:

  • Retinal Disorders Superpanel
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    • Literature
    Phenotypes
    • Mitochondrial disease, MONDO:0044970

    Amber SUPV3L1 in Mitochondrial disease


    Level 2: Metabolic disorders
    Version 0.1299

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Mitochondrial disease, MONDO:0044970

    Amber SUPV3L1 in Regression


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.601

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    • Literature
    Phenotypes
    • Mitochondrial disease, MONDO:0044970