Hereditary spastic paraplegia - adult onset

Gene: CDK16

Red List (low evidence)

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

3 reviews

Nick Beauchamp (Sheffield Diagnostic Genetics Service)

Red List (low evidence)

Childhood onset. Currently only one family reported.
Created: 10 May 2019, 11:55 a.m.

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

Publications

Louise Daugherty (Genomics England Curator)

I don't know

Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Created: 9 May 2019, 4:50 p.m.

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Red List (low evidence)

Not associated with phenotype in OMIM. 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. Publications 26350204, 25644381
. Vctoria: RED
Created: 25 Apr 2019, 1:22 p.m.

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

Phenotypes
Intellectual disability and spastic paraplegia, x-linked

Details

Mode of Inheritance
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
OMIM
311550
Clinvar variants
Variants in CDK16
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 May 2019, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: CDK16 were set to

13 May 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to CDK16.

25 Apr 2019, Gel status: 1

Added New Source, Set mode of inheritance, Set Phenotypes

Louise Daugherty (Genomics England Curator)

Source Expert Review Red was added to CDK16. Mode of inheritance for gene CDK16 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females Added phenotypes Intellectual disability and spastic paraplegia, x-linked for gene: CDK16

24 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to CDK16.

24 Apr 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: CDK16 was added gene: CDK16 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: CDK16 was set to