UPF1

UPF1, RNA helicase and ATPase
OMIM: 601430, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Amber UPF1 in Mendeliome


Version 1.1891

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Developmental disorders

Amber UPF1 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 0.6063

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Developmental disorders