USP14

ubiquitin specific peptidase 14
OMIM: 607274, ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Red USP14 in Arthrogryposis


Level 2: Neurology and neurodevelopmental disorders
Version 0.416

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

Green USP14 in Mendeliome


Version 1.2302

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Syndromic disease MONDO:0002254, USP14-related

Green USP14 in Callosome


Level 2: Neurology and neurodevelopmental disorders
Version 0.540

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

Amber USP14 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.63

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Syndromic disease MONDO:0002254, USP14-related

Green USP14 in Fetal anomalies


Version 1.313

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