CASK

calcium/calmodulin dependent serine protein kinase
OMIM: 300172, Gene2Phenotype

17 panels

Panel Reviews Mode of inheritance Details
17 panels
Green CASK in Ataxia and cerebellar anomalies - narrow panel


Version 5.3
Latest signed off version: v5.0 (1 May 2024)

Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset
  • review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Green
    Phenotypes
    • FG syndrome 4, 300422
    • Mental retardation, with or without nystagmus
    • Mental retardation and microcephaly with pontine and cerebellar hypoplasia
    • Pontocerebellar Hypoplasia
    • FG syndrome 4
    • Mental retardation and microcephaly with pontine and cerebellar hypoplasia, 300749
    • Mental retardation, with or without nystagmus, 300422
    Green CASK in Hereditary ataxia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.332

    review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Green
    • UKGTN
    Phenotypes
    • FG syndrome 4, 300422
    • Mental retardation and microcephaly with pontine and cerebellar hypoplasia, 300749
    Green CASK in Malformations of cortical development

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.5
    Latest signed off version: v5.0 (1 May 2024)

    Component of the following Super Panels:

  • Cerebral malformation
  • review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Mental retardation and microcephaly with pontine and cerebellar hypoplasia OMIM:300749
    Green CASK in Albinism or congenital nystagmus


    Version 3.5
    Latest signed off version: v3.0 (22 Mar 2023)

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Mental retardation, with or without nystagmus 300422
    • Mental retardation and microcephaly with pontine and cerebellar hypoplasia 300749 XLD
    • FG syndrome 4 300422
    Red CASK in Autism


    Version 0.36

    review Not set
    Sources
    • Expert Review Red
    • SFARI
    Green CASK in Severe microcephaly

    Level 3: DNA repair disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 5.7
    Latest signed off version: v5.0 (1 May 2024)

    review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • NHS GMS
    • Expert Review Green
    • UKGTN
    • Radboud University Medical Center, Nijmegen
    • Other
    • Emory Genetics Laboratory
    Phenotypes
    • CASK-related XLID
    • severe intellectual disability, brainstem and cerebellar hypoplasia, and microcephaly
    • Mental retardation and microcephaly with pontine and cerebellar hypoplasia, 300749
    • MICPCH
    • Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia, 300749
    Green CASK in Cerebellar hypoplasia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.73

    review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    • Other
    • Eligibility statement prior genetic testing
    Phenotypes
    • Mental retardation and microcephaly with pontine and cerebellar hypoplasia
    • FG syndrome 4
    • Mental retardation, with or without nystagmus
    • Pontocerebellar Hypoplasia
    • Mental retardation and microcephaly with pontine and cerebellar hypoplasia, 300749
    • FG syndrome 4, 300422
    • Mental retardation, with or without nystagmus, 300422
    Red CASK in Adult onset neurodegenerative disorder


    Version 5.3
    Latest signed off version: v5.0 (1 May 2024)

    review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Red
    • Wessex and West Midlands GLH
    • Yorkshire and North East GLH
    • NHS GMS
    • London North GLH
    Phenotypes
    • FG syndrome 4, 300422
    • Mental retardation and microcephaly with pontine and cerebellar hypoplasia, 300749
    Amber CASK in Non-syndromic familial congenital anorectal malformations

    Level 3: Gastrointestinal disorders
    Level 2: Gastroenterological disorders
    Version 1.9

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • anorectal malformation
    • FG syndrome 4 300422
    Tags
    • watchlist
    Green CASK in Fetal anomalies


    Version 4.1
    Latest signed off version: v4.0 (1 May 2024)

    review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • MRX WITH/WITHOUT NYSTAGMUS
    • MENTAL RETARDATION X-LINKED CASK-RELATED
    • FG SYNDROME TYPE 4
    Green CASK in DDG2P


    Version 4.3
    Latest signed off version: v4.0 (1 May 2024)

    Component of the following Super Panels:

  • Paediatric disorders
  • review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • MENTAL RETARDATION X-LINKED CASK-RELATED 300749
    • FG SYNDROME TYPE 4 300422
    • MRX WITH/WITHOUT NYSTAGMUS 300749
    Red CASK in Clefting

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 5.3
    Latest signed off version: v5.0 (1 May 2024)

    Component of the following Super Panels:

  • Paediatric disorders
  • review Not set
    Sources
    • Expert Review Red
    Phenotypes
    • MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA
    • MICPCH
    Green CASK in Early onset or syndromic epilepsy

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.10
    Latest signed off version: v5.0 (1 May 2024)

    Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood
  • review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Wessex and West Midlands GLH
    • NHS GMS
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Expert
    Phenotypes
    • Mental retardation and microcephaly with pontine and cerebellar hypoplasia 300749
    • Mental retardation, with or without nystagmus 300422
    Green CASK in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 6.13
    Latest signed off version: v6.0 (1 May 2024)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Emory Genetics Laboratory
    Phenotypes
    • Mental retardation and microcephaly with pontine and cerebellar hypoplasia, 300749FG syndrome 4, 300422Mental retardation, with or without nystagmus, 300422
    • MENTAL RETARDATION X-LINKED CASK-RELATED (MRXCASK)
    Green CASK in Hereditary ataxia with onset in adulthood


    Version 5.3
    Latest signed off version: v5.0 (1 May 2024)

    review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • NHS GMS
    • Wessex and West Midlands GLH
    • Expert Review Green
    • Hereditary ataxia v1.148
    Phenotypes
    • FG syndrome 4, 300422
    • Mental retardation and microcephaly with pontine and cerebellar hypoplasia, 300749
    Red CASK in Childhood onset dystonia, chorea or related movement disorder


    Version 4.3
    Latest signed off version: v4.0 (1 May 2024)

    review Not set
    Sources
    • Expert Review Red
    • London North GLH
    Green CASK in Severe Paediatric Disorders


    Version 1.184

    review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Mental retardation and microcephaly with pontine and cerebellar hypoplasia, 300749
    • FG syndrome 4, 300422
    • Mental retardation, with or without nystagmus, 300422