1. Panels
  2. Intellectual disability
  3. CDK16
Genes in panel
Prev Next
Regions in panel
Prev Next

Intellectual disability

Gene: CDK16

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

3 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green and the mode of inheritance updated to X-LINKED: hemizygous mutation in males, biallelic mutations in females following NHS Genomic Medicine Service approval.
Created: 3 May 2024, 11:55 a.m. | Last Modified: 3 May 2024, 11:55 a.m.
Panel Version: 6.11
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Created: 2 Jan 2024, 6:05 p.m. | Last Modified: 2 Jan 2024, 6:05 p.m.
Panel Version: 5.356
Comment on phenotypes: Intellectual disability, MONDO:0001071 is the phenotype listed for CDK16 in Gene2Phen (2nd January 2024)
Created: 2 Jan 2024, 5:49 p.m. | Last Modified: 2 Jan 2024, 5:49 p.m.
Panel Version: 5.355
To date, CDK16 variants have not been associated with a phenotype in OMIM, but have a limited association with intellectual disability (ID) in Gen2Phen. Four CDK16 variants have been associated with a spectrum of phenotypic features, including ID (n= 3), autism spectrum disorder (n= 3), seizures (n= 2) and spacity (n= 2)(PMID:36323681, 31981491, 25644381).
Created: 2 Jan 2024, 5:45 p.m. | Last Modified: 2 Jan 2024, 5:45 p.m.
Panel Version: 5.354
Not associated with phenotype in OMIM and as a possible G2P. At least 1 trucating 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: 15 Dec 2017, 9:38 a.m.

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

Publications

Created: 15 Dec 2017, 9:38 a.m.

Panel version: 6.11

Caroline Wright (Sanger)

Red List (low evidence)

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Created: 5 Nov 2017, 2:42 a.m.

Panel version: 0

Lu Raymond (university of cambridge )

Red List (low evidence)

Created: 23 Feb 2016, 11:13 a.m.

Panel version: 0.306

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • NHS GMS
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • Intellectual disability, MONDO:0001071
Tags
gene-checked
OMIM
311550
Clinvar variants
Variants in CDK16
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

8 May 2024, Gel status: 3

Added Tag

Eleanor Williams (Genomics England Curator)

Tag gene-checked tag was added to gene: CDK16.

3 May 2024, Gel status: 3

Removed Tag, Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q4_23_promote_green was removed from gene: CDK16. Tag Q4_23_NHS_review was removed from gene: CDK16.

3 May 2024, Gel status: 3

Added New Source, Added New Source, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Green was added to CDK16. Source NHS GMS was added to CDK16. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

2 Jan 2024, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: cdk16 has been classified as Amber List (Moderate Evidence).

2 Jan 2024, Gel status: 2

Added Tag, Added Tag

Sarah Leigh (Genomics England Curator)

Tag Q4_23_promote_green tag was added to gene: CDK16. Tag Q4_23_NHS_review tag was added to gene: CDK16.

2 Jan 2024, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: CDK16 were changed from to Intellectual disability, MONDO:0001071

2 Jan 2024, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: CDK16 were set to 26350204; 25644381

11 Feb 2021, Gel status: 2

Clear Sources

Catherine Snow (Genomics England)

Source: Expert Review Red was removed from gene: CDK16

12 Mar 2018, Gel status: 2

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

5 Jan 2018, Gel status: 2

Added New Source, Set mode of inheritance, Set publications

Ellen McDonagh (Genomics England Curator)

Expert Review Amber was added to CDK16. Panel: Intellectual disability Model of inheritance for gene CDK16 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene CDK16 was set to ['26350204', ' 25644381']

13 Nov 2015, Gel status: 1

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 2

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

CDK16 was added to Intellectual disabilitypanel. Source: Expert Review Red

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

CDK16 was added to Intellectual disabilitypanel. Sources: Emory Genetics Laboratory