Adult onset hereditary spastic paraplegia
Gene: CDK16

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

25644381

Created: 10 May 2019, 11:55 a.m.

Panel version: 0.53

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.

Created: 25 Apr 2019, 1:37 p.m.

Panel version: 0.53

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

Created: 25 Apr 2019, 1:22 p.m.

Panel version: 0.5

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

25644381

Panels with this gene