SUPV3L1

Suv3 like RNA helicase
OMIM: 605122, ClinGen, DECIPHER

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green SUPV3L1 in Mendeliome


Version 2.588

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Literature
Phenotypes
  • Mitochondrial disease, MONDO:0044970, SUPV3L1-related
Tags
  • preprint

Green SUPV3L1 in Microcephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.32

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Literature
  • Literature
  • Literature
Phenotypes
  • Mitochondrial disease, MONDO:0044970, SUPV3L1-related

Green SUPV3L1 in Optic Atrophy


Level 2: Ophthalmological disorders
Version 2.4

Component of the following Super Panels:

  • Retinal Disorders Superpanel
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    • Literature
    Phenotypes
    • Mitochondrial disease, MONDO:0044970, SUPV3L1-related

    Green SUPV3L1 in Mitochondrial disease


    Level 2: Metabolic disorders
    Version 2.9

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Mitochondrial disease, MONDO:0044970, SUPV3L1-related

    Green SUPV3L1 in Regression


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.8

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    • Literature
    Phenotypes
    • Mitochondrial disease, MONDO:0044970, SUPV3L1-related

    Green SUPV3L1 in Leukodystrophy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.10

    Component of the following Super Panels:

  • Progressive Neurological Conditions
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    • Literature
    • Literature
    • Literature
    Phenotypes
    • Mitochondrial disease, MONDO:0044970, SUPV3L1-related