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Multiple Tumours

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

1 review

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Promoted from red to green, as this gene is reported for germline pertinent findings in the Cancer Programme, for Malignant Melanoma.
Created: 18 Apr 2017, 9:34 a.m.
Information from TruSight panel: Pathogenic Mutations are Activating.
Created: 5 Feb 2016, 11:46 a.m.

Mode of pathogenicity
Other - please provide details in the comments

Created: 5 Feb 2016, 11:46 a.m.

Panel version: 0.2

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • TruSight Cancer Panel (Illumina)
Phenotypes
  • Melanoma
  • Malignant Melanoma
OMIM
123829
Clinvar variants
Variants in CDK4
Penetrance
Complete
Mode of Pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Panels with this gene

History Filter Activity

20 Jul 2017, Gel status: 4

Set mode of pathogenicity

Ellen McDonagh (Genomics England Curator)

Mode of pathogenicity for CDK4 was changed to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

18 Apr 2017, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for CDK4 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

18 Apr 2017, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for CDK4 were set to Melanoma;Malignant Melanoma

18 Apr 2017, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

17 Mar 2017, Gel status: 0

Set mode of pathogenicity

Ellen McDonagh (Genomics England Curator)

Mode of pathogenicity for CDK4 was changed to Other - please provide details in the comments

17 Mar 2017, Gel status: 0

Set mode of pathogenicity

Ellen McDonagh (Genomics England Curator)

Mode of pathogenicity for CDK4 was changed to Other - please provide details in the comments

5 Feb 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

CDK4 was created by ellenmcdonagh

5 Feb 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

CDK4 was added to Multiple Tumourspanel. Sources: TruSight Cancer Panel (Illumina)