1. Genes and Genomic Entities
  2. UPF1

UPF1

UPF1, RNA helicase and ATPase
OMIM: 601430, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Green UPF1 in DDG2P


Version 6.424
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • UPF1-related developmental disorder (monoallelic)
    Tags
    • gene-checked
    Amber UPF1 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 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • neurodevelopmental disorder, MONDO:0700092
    • intellectual disability, MONDO:0001071
    Tags
    • Q3_25_promote_green
    • Q3_25_NHS_review