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Inherited pancreatic cancer

Gene: CDK4

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

4 reviews

Arina Puzriakova (Genomics England Curator)

Comment on phenotypes: This gene is also associated with {Melanoma, cutaneous malignant, 3} (MIM# 609048)
Created: 3 Mar 2021, 2:25 p.m. | Last Modified: 3 Mar 2021, 2:25 p.m.
Panel Version: 1.10
Created: 3 Mar 2021, 2:25 p.m.
Last Modified: 3 Mar 2021, 2:25 p.m.
Panel version: 1.10

Ivone Leong (Genomics England Curator)

Comment on list classification: As discussed in the GMS Inherited Cancer Specialist Test Group webex call 31st Jan 2019: The Specialist Test Group agreed that this gene should be rated amber.
Created: 1 Feb 2019, 10:12 a.m.
Created: 1 Feb 2019, 10:12 a.m.

Panel version: 0.27

Rachel Robinson (Leeds Genetics Laboratory)

Green List (high evidence)

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 30 Jan 2019, 10:34 a.m.

Panel version: 0.3

Clare Turnbull (Queen Mary University London)

Green List (high evidence)

Gain of function
Created: 5 Jul 2017, 12:19 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Hereditary Melanoma

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

Created: 5 Jul 2017, 12:19 p.m.

Panel version: Imported from Adult solid tumours pertinent cancer susceptibility panel version 0.2

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Malignant pancreatic neoplasm, MONDO:0009831
OMIM
123829
Clinvar variants
Variants in CDK4
Penetrance
None
Publications
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

3 Mar 2021, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: CDK4 were changed from to Malignant pancreatic neoplasm, MONDO:0009831

3 Mar 2021, Gel status: 2

Set mode of pathogenicity

Arina Puzriakova (Genomics England Curator)

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

15 Oct 2019, Gel status: 2

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: CDK4 were set to

1 Feb 2019, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: cdk4 has been classified as Amber List (Moderate Evidence).

30 Jan 2019, Gel status: 3

Set mode of inheritance

Ivone Leong (Genomics England Curator)

Mode of inheritance for gene: CDK4 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

30 Jan 2019, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: cdk4 has been classified as Green List (High Evidence).

30 Jan 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Ivone Leong (Genomics England Curator)

gene: CDK4 was added gene: CDK4 was added to Inherited pancreatic cancer. Sources: NHS GMS Mode of inheritance for gene: CDK4 was set to