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Mendeliome

Gene: CDK16

Green List (high evidence)

CDK16 (cyclin dependent kinase 16)
EnsemblGeneIds (GRCh38): ENSG00000102225
EnsemblGeneIds (GRCh37): ENSG00000102225
OMIM: 311550, Gene2Phenotype
CDK16 is in 2 panels

2 reviews

Alison Yeung (Victorian Clinical Genetics Services)

Green List (high evidence)

4 families reported
Created: 5 Jan 2023, 3:45 a.m. | Last Modified: 5 Jan 2023, 3:45 a.m.
Panel Version: 1.583

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

Phenotypes
Neurodevelopmental disorder (MONDO#0700092) CDK16-related

Publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Single family described in this manuscript describing multiple candidate genes for XLID.
Sources: Expert list
Created: 6 Dec 2019, 8:20 p.m.

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

Phenotypes
Intellectual disability

Publications

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Neurodevelopmental disorder (MONDO#0700092) CDK16-related
OMIM
311550
Clinvar variants
Variants in CDK16
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Jan 2023, Gel status: 3

Set Phenotypes

Alison Yeung (Victorian Clinical Genetics Services)

Phenotypes for gene: CDK16 were changed from Intellectual disability to Neurodevelopmental disorder (MONDO#0700092) CDK16-related

5 Jan 2023, Gel status: 3

Set publications

Alison Yeung (Victorian Clinical Genetics Services)

Publications for gene: CDK16 were set to 25644381

5 Jan 2023, Gel status: 3

Entity classified by Genomics England curator

Alison Yeung (Victorian Clinical Genetics Services)

Gene: cdk16 has been classified as Green List (High Evidence).

6 Dec 2019, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

6 Dec 2019, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

6 Dec 2019, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CDK16 was added gene: CDK16 was added to Mendeliome_VCGS. Sources: Expert list 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 Phenotypes for gene: CDK16 were set to Intellectual disability Review for gene: CDK16 was set to AMBER