CDK16

cyclin dependent kinase 16
OMIM: 311550, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Amber CDK16 in Hereditary spastic paraplegia

Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.311

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Intellectual disability and spastic paraplegia
Red CDK16 in Childhood onset hereditary spastic paraplegia


Version 4.42
Latest signed off version: v4.0 (22 Mar 2023)

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • Yorkshire and North East GLH
  • NHS GMS
  • London North GLH
  • Literature
Phenotypes
  • Intellectual disability and spastic paraplegia, x-linked
Red CDK16 in Adult onset hereditary spastic paraplegia


Version 3.21
Latest signed off version: v3.14 (31 Jul 2023)

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Yorkshire and North East GLH
  • Expert Review Red
  • NHS GMS
  • London North GLH
Phenotypes
  • Intellectual disability and spastic paraplegia, x-linked
Red CDK16 in Adult onset neurodegenerative disorder


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

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
  • Expert Review Red
  • London North GLH
  • NHS GMS
  • South West GLH
Phenotypes
  • Intellectual disability and spastic paraplegia
Red CDK16 in DDG2P


Version 3.87
Latest signed off version: v3.1 (22 Mar 2023)

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 Red
    Phenotypes
    • INTELLECTUAL DISABILITY
    Amber CDK16 in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.532
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Amber
    • Emory Genetics Laboratory
    Phenotypes
    • Intellectual disability, MONDO:0001071
    Tags
    • Q4_23_promote_green
    • Q4_23_NHS_review