1. Genes and Genomic Entities
  2. USP14

USP14

ubiquitin specific peptidase 14
OMIM: 607274, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Green USP14 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 7.10
Latest signed off version: v7.0 (6 May 2026)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Literature
Phenotypes
  • syndromic disease, MONDO:0002254
  • distal arthrogryposis, MONDO:0019942
Tags
  • gene-checked
Green USP14 in DDG2P


Version 7.1
Latest signed off version: v7.0 (6 May 2026)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • USP14-related syndromic neurodevelopmental disorder with arthrogryposis
    Tags
    • gene-checked