USP14

ubiquitin specific peptidase 14
OMIM: 607274, ClinGen, DECIPHER

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Green USP14 in Callosome


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Syndromic disease MONDO:0002254, USP14-related
  • Distal arthrogryposis, corpus callosum anomalies, and dysmorphic features
  • no OMIM #

Green USP14 in Fetal anomalies


Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Syndromic disease MONDO:0002254, USP14-related
  • Distal arthrogryposis, corpus callosum anomalies, and dysmorphic features