Pigmentary skin disorders

Gene: CDK4

Green List (high evidence)

CDK4 (cyclin dependent kinase 4)
EnsemblGeneIds (GRCh38): ENSG00000135446
EnsemblGeneIds (GRCh37): ENSG00000135446
OMIM: 123829, Gene2Phenotype
CDK4 is in 7 panels

2 reviews

Tom Cullup (Great Ormond Street Hospital)

Green List (high evidence)

Specific activating mutations only at R24 only?
Created: 12 Dec 2019, 12:23 p.m. | Last Modified: 12 Dec 2019, 12:23 p.m.
Panel Version: 0.25

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3; CMM3

Publications

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

This gene was part of an initial gene list collated by Thomas Cullup, GOSH and Veronica Kinsler, UCL, 25.Jan.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted: CDK4; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.
Created: 31 Jan 2019, 11:31 a.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
Phenotypes
  • MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3
  • Melanoma susceptibility
  • CMM3
OMIM
123829
Clinvar variants
Variants in CDK4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Dec 2019, Gel status: 3

Set Phenotypes, Set publications

Catherine Snow (Genomics England)

Added phenotypes MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3; CMM3 for gene: CDK4 Publications for gene CDK4 were changed from to 15880589; 8528263

18 Feb 2019, Gel status: 4

Added New Source

Rebecca Foulger (Genomics England curator)

Source London North GLH was added to CDK4.

31 Jan 2019, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: CDK4 was added gene: CDK4 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: CDK4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CDK4 were set to Melanoma susceptibility