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  3. CDK16
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Hereditary spastic paraplegia

Gene: CDK16

Amber List (moderate evidence)
CDK16 (cyclin dependent kinase 16)
EnsemblGeneIds (GRCh38): ENSG00000102225
EnsemblGeneIds (GRCh37): ENSG00000102225
OMIM: 311550, Gene2Phenotype
CDK16 is in 6 panels

2 reviews

Louise Daugherty (Genomics England Curator)

Gene to be reviewed again after the GMS Neurology specialist test group have reviewed and agreed rating of gene on the Hereditary spastic paraplegia - childhood onset panel on May 2019
Created: 3 May 2019, 8:26 a.m.
Created: 3 May 2019, 8:26 a.m.

Panel version: 1.203

Sarah Leigh (Genomics England Curator)

I don't know

Not associated with phenotype in OMIM and as a possible G2P. At least 1 truncating variant identified in 4 affected members of a family with ID and spastic paraplegia, also present in 3 obligate female carriers but not in one unaffected male.
Created: 19 Dec 2017, 5:10 p.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Intellectual disability and spastic paraplegia

Publications

Created: 19 Dec 2017, 5:10 p.m.

Panel version: 1.47

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Intellectual disability and spastic paraplegia
OMIM
311550
Clinvar variants
Variants in CDK16
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 Dec 2017, Gel status: 2

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

19 Dec 2017, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

CDK16 was added to Hereditary spastic paraplegia panel. Sources: Literature

19 Dec 2017, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

CDK16 was created by Sarah Leigh