USP14

ubiquitin specific peptidase 14
OMIM: 607274, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Red USP14 in Arthrogryposis


Level 2: Neurology and neurodevelopmental disorders
Version 0.417

Component of the following Super Panels:

  • Neuromuscular Superpanel
  • 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 1.2374

    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

    review 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 1.83

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

    Green USP14 in Fetal anomalies


    Version 1.314

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