1. Genes and Genomic Entities
  2. SUPV3L1

SUPV3L1

Suv3 like RNA helicase
OMIM: 605122, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Amber SUPV3L1 in Likely inborn error of metabolism


Level 2: Metabolic
Version 8.91
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Mitochondrial RNA Helicase SUPV3L1-Associated neurodegenerative syndrome
    Tags
    • Q2_25_ promote_green
    Amber SUPV3L1 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.285
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Mitochondrial RNA Helicase SUPV3L1-Associated neurodegenerative syndrome
    Tags
    • Q1_25_ promote_green
    Amber SUPV3L1 in Mitochondrial disorders


    Level 2: Mitochondrial
    Version 9.41
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Mitochondrial RNA Helicase SUPV3L1-Associated neurodegenerative syndrome
    Tags
    • Q1_25_ promote_green