CWF19L1

CWF19 like 1, cell cycle control (S. pombe)
OMIM: 616120, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green CWF19L1 in Ataxia and cerebellar anomalies - narrow panel


Version 2.39
Signed off v.2.23 on 8 Oct 2020

Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Spinocerebellar ataxia, autosomal recessive 17, 616127

    Green CWF19L1 in Hereditary ataxia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.207

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Spinocerebellar ataxia, autosomal recessive 17, 616127

    Green CWF19L1 in Cerebellar hypoplasia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.41

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Spinocerebellar ataxia, autosomal recessive 17, 616127

    Red CWF19L1 in Neurodegenerative disorders - adult onset


    Version 2.38
    Signed off v.2.31 on 8 Oct 2020

    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
    • Spinocerebellar ataxia, autosomal recessive 17, 616127

    Green CWF19L1 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.714
    Signed off v.3.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Literature
    Phenotypes
    • Spinocerebellar ataxia, autosomal recessive 17, 616127
    • intellectual disability, developmental delay

    Green CWF19L1 in Hereditary ataxia - adult onset


    Version 2.20
    Signed off v.2.13 on 6 Oct 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Wessex and West Midlands GLH
    • Expert Review Green
    • Hereditary ataxia v1.148
    Phenotypes
    • Spinocerebellar ataxia, autosomal recessive 17, 616127
    • Autosomal recessive spinocerebellar ataxia type 17, 616127

    Amber CWF19L1 in Childhood onset dystonia or chorea or related movement disorder


    Version 1.72
    Signed off v.1.58 on 6 Oct 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • London North GLH
    • Expert Review Amber
    Phenotypes
    • Spinocerebellar ataxia, autosomal recessive 17, 616127

    Green CWF19L1 in Severe Paediatric Disorders


    Version 1.42

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Spinocerebellar ataxia, autosomal recessive 17, 616127