Hereditary spastic paraplegia - childhood 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, 11:54 a.m.

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

Louise Daugherty (Genomics England Curator)

I don't know

Amber gene with Red GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Red rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.
Created: 21 May 2019, 4:50 p.m.
Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Created: 9 May 2019, 4:54 p.m.
Amber rating on Hereditary spastic paraplegia panel 1.198
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.
Sarah Leigh (Genomics England Curator), 19 Dec 2017
Created: 2 May 2019, 3:50 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: 28 Apr 2019, 4:16 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
  • Expert Review Red
  • Yorkshire and North East GLH
  • NHS GMS
  • London North GLH
  • Literature
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

21 May 2019, Gel status: 1

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Red was added to CDK16. Rating Changed from Amber List (moderate evidence) to Red List (low evidence)

13 May 2019, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: CDK16 were changed from Intellectual disability and spastic paraplegia to Intellectual disability and spastic paraplegia, x-linked

13 May 2019, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to CDK16.

28 Apr 2019, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to CDK16.

28 Apr 2019, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to CDK16.

3 Apr 2019, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Intellectual disability and spastic paraplegia for gene: CDK16

28 Jan 2019, Gel status: 2

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Arianna Tucci: Age at onset 19 to 39 accordin

19 Dec 2018, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Sarah Leigh (Genomics England Curator)

gene: CDK16 was added gene: CDK16 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review Amber,Literature Mode of inheritance for gene: CDK16 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: CDK16 were set to 25644381; 26350204 Phenotypes for gene: CDK16 were set to Intellectual disability and spastic paraplegia