Genomics England
GMS Panels
Panels
Genes and Entities

USP14

ubiquitin specific peptidase 14
OMIM: 607274
PanelMode of inheritanceDetails
2 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.48
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
USP14-related syndromic neurodevelopmental disorder with arthrogryposis
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.80
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
syndromic disease, MONDO:0002254, distal arthrogryposis, MONDO:0019942