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  1. Genes and Genomic Entities
  2. CYLD

CYLD

CYLD lysine 63 deubiquitinase
OMIM: 605018, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Amber CYLD in Early-onset Dementia


Level 2: Neurology and neurodevelopmental disorders
Version 1.50

Component of the following Super Panels:

  • Neurodegenerative disease - adult onset
  • Progressive Neurological Conditions

    		•  2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Frontotemporal dementia and/or amytrophic lateral sclerosis 8, MIM# 619132

    Amber CYLD in Motor Neurone Disease


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.39

    Component of the following Super Panels:

  • Neurodegenerative disease - adult onset
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  4 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    • Victorian Clinical Genetics Services
    Phenotypes
    • Frontotemporal dementia and/or amytrophic lateral sclerosis 8, MIM# 619132

    Green CYLD in Mendeliome


    Version 1.3512

    		2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Brooke-Spiegler syndrome, 605041
    • Cylindromatosis, familial, 132700
    • Trichoepithelioma, multiple familial, 1, 601606
    • Frontotemporal dementia and/or amytrophic lateral sclerosis 8, MIM# 619132

    Green CYLD in Facial papules


    Level 2: Dermatological disorders
    Version 1.0

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • familial cylindromatosis MONDO:0007565