DCAF17

DDB1 and CUL4 associated factor 17
OMIM: 612515, Gene2Phenotype

13 panels

Panel Reviews Mode of inheritance Details
13 panels
Red DCAF17 in Diabetes with additional phenotypes suggestive of a monogenic aetiology

Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 1.67

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert Review
Green DCAF17 in Early onset dystonia

Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.147

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • Dystonia
  • Woodhouse-Sakati syndrome
Green DCAF17 in White matter disorders and cerebral calcification - narrow panel


Version 3.35
Latest signed off version: v3.0 (22 Mar 2023)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Expert list
    Phenotypes
    • Woodhouse-Sakati syndrome, OMIM:241080
    Green DCAF17 in Familial diabetes

    Level 3: Disorders of unusual phenotypes
    Level 2: Endocrine disorders
    Version 1.67

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Expert Review
    Phenotypes
    • Woodhouse-Sakati syndrome, 241080
    Green DCAF17 in Hypogonadotropic hypogonadism

    Level 3: Hypothalamic and pituitary disorders
    Level 2: Endocrine disorders
    Version 1.41

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Woodhouse-Sakati syndrome 241080
    Amber DCAF17 in Hypogonadotropic hypogonadism (GMS)


    Version 3.18
    Latest signed off version: v3.0 (22 Mar 2023)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Wessex and West Midlands GLH
    • NHS GMS
    • South West GLH
    Phenotypes
    • Woodhouse-Sakati syndrome (OMIM 241080)
    Green DCAF17 in Monogenic diabetes


    Version 2.58
    Latest signed off version: v2.2 (25 Feb 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Woodhouse-Sakati syndrome, OMIM:241080
    Red DCAF17 in Adult onset neurodegenerative disorder


    Version 4.47
    Latest signed off version: v4.34 (31 Jul 2023)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Wessex and West Midlands GLH
    • Yorkshire and North East GLH
    • NHS GMS
    • London North GLH
    Phenotypes
    • Dystonia
    • Woodhouse-Sakati syndrome
    Red DCAF17 in DDG2P


    Version 3.90
    Latest signed off version: v3.1 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Red
    Phenotypes
    • WOODHOUSE-SAKATI SYNDROME 241080
    Green DCAF17 in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.557
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Woodhouse-Sakati syndrome, 241080
    • WOODHOUSE-SAKATI SYNDROME (WOSAS)
    Green DCAF17 in Adult onset dystonia, chorea or related movement disorder


    Version 3.18
    Latest signed off version: v3.12 (31 Jul 2023)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • London North GLH
    • Expert Review Green
    Phenotypes
    • Woodhouse-Sakati syndrome, OMIM:241080
    Green DCAF17 in Childhood onset dystonia, chorea or related movement disorder


    Version 3.78
    Latest signed off version: v3.0 (22 Mar 2023)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PanelApp
    • Expert Review Green
    • London North GLH
    Phenotypes
    • Dystonia
    • Woodhouse-Sakati syndrome, 241080
    Green DCAF17 in Severe Paediatric Disorders


    Version 1.184

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Woodhouse-Sakati syndrome, 241080