PUSL1

pseudouridine synthase like 1
ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Amber PUSL1 in Mendeliome


Version 2.626

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Mitochondrial disease, MONDO:0044970, PUSL1-related

Amber PUSL1 in Microcephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.33

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
  • Literature
Phenotypes
  • Mitochondrial disease, MONDO:0044970, PUSL1-related

Amber PUSL1 in Mitochondrial disease


Level 2: Metabolic disorders
Version 2.10

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    • Literature
    Phenotypes
    • Mitochondrial disease, MONDO:0044970, PUSL1-related

    Amber PUSL1 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.157

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    • Literature
    Phenotypes
    • Mitochondrial disease, MONDO:0044970, PUSL1-related