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Familial melanoma

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

5 reviews

Ivone Leong (Genomics England Curator)

As discussed in the GMS Inherited Cancer Specialist Test Group webex call 31st Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Created: 31 Jul 2019, 12:54 p.m. | Last Modified: 31 Jul 2019, 12:54 p.m.
Panel Version: 0.23
Created: 31 Jul 2019, 12:54 p.m.
Last Modified: 31 Jul 2019, 12:54 p.m.
Panel version: 0.23

Rachel Robinson (Leeds Genetics Laboratory)

Green List (high evidence)

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

Created: 30 Jan 2019, 10:20 a.m.

Panel version: 0.3

Lara Hawkes (Genomics England)

Green List (high evidence)

Created: 30 Jan 2019, 10:20 a.m.

Panel version: 0.3

Clare Turnbull (Queen Mary University London)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Malignant 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: 20 Jul 2017, 1:36 p.m.

Panel version: Imported from Melanoma pertinent cancer susceptibility panel version Imported from "Solid tumours" panel version 0.4

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Details checked against the Gene List for Reporting Germline Findings in Cancer Patients Version 1.5 document, for Malignant Melanoma.
Created: 26 Jul 2017, 11:55 a.m.
Comment on mode of pathogenicity: Activating variants.
Created: 19 Jul 2017, 3:38 p.m.
Created: 19 Jul 2017, 3:38 p.m.

Panel version: Imported from Melanoma pertinent cancer susceptibility panel version 0.3

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
  • Expert List
OMIM
123829
Clinvar variants
Variants in CDK4
Penetrance
None
Panels with this gene

History Filter Activity

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 Familial melanoma. Sources: Expert List,NHS GMS Mode of inheritance for gene: CDK4 was set to