CDK5

cyclin dependent kinase 5
OMIM: 123831, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Amber CDK5 in Ataxia and cerebellar anomalies - narrow panel


Level 2: Neurology
Version 8.63
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    Phenotypes
    • Lissencephaly 7 with cerebellar hypoplasia, OMIM:616342
    • lissencephaly 7 with cerebellar hypoplasia, MONDO:0014596
    Tags
    • Q3_25_promote_green
    Amber CDK5 in Malformations of cortical development


    Level 2: Neurology
    Version 7.30
    Latest signed off version: v7.0 (30 Oct 2024)

    Component of the following Super Panels:

  • Cerebral malformation
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Lissencephaly 7 with cerebellar hypoplasia, OMIM:616342
    • lissencephaly 7 with cerebellar hypoplasia, MONDO:0014596
    Tags
    • Q3_25_promote_green
    Green CDK5 in Cerebellar hypoplasia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.86

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Lissencephaly 7 with cerebellar hypoplasia, OMIM:616342
    • lissencephaly 7 with cerebellar hypoplasia, MONDO:0014596
    Green CDK5 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.140
    Latest signed off version: v6.0 (30 Apr 2025)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Lissencephaly 7 with cerebellar hypoplasia, OMIM:616342
    • lissencephaly 7 with cerebellar hypoplasia, MONDO:0014596
    Amber CDK5 in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 8.125
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Lissencephaly 7 with cerebellar hypoplasia, OMIM:616342
    • lissencephaly 7 with cerebellar hypoplasia, MONDO:0014596
    Tags
    • Q3_25_promote_green
    Red CDK5 in Hereditary ataxia with onset in adulthood


    Level 2: Neurology
    Version 8.23
    Latest signed off version: v8.0 (30 Apr 2025)

    review Not set
    Sources
    • NHS GMS
    • Wessex and West Midlands GLH
    Phenotypes
    • Lissencephaly 7 with cerebellar hypoplasia, OMIM:616342