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Melanoma

Gene: CDK4

Green List (high evidence)
CDK4 (cyclin dependent kinase 4)
EnsemblGeneIds (GRCh38): ENSG00000135446
EnsemblGeneIds (GRCh37): ENSG00000135446
OMIM: 123829, Gene2Phenotype
CDK4 is in 5 panels

1 review

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

ClinGen definitive. GOF variants.
Created: 12 Sep 2024, 3:33 a.m. | Last Modified: 12 Sep 2024, 3:33 a.m.
Panel Version: 0.9

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Melanoma, MONDO:0005105; CDK4 linked melanoma, MONDO:0022623; Melanoma cutaneous malignant susceptibility to 3, MONDO:0012183; Melanoma, cutaneous malignant, 3, MIM#609048

Created: 12 Sep 2024, 3:31 a.m.
Last Modified: 12 Sep 2024, 3:32 a.m.
Panel version: 0.9

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • SA Pathology
Phenotypes
  • Melanoma, MONDO:0005105
  • CDK4 linked melanoma, MONDO:0022623
  • Melanoma cutaneous malignant susceptibility to 3, MONDO:0012183
  • Melanoma, cutaneous malignant, 3, MIM#609048
OMIM
123829
Clinvar variants
Variants in CDK4
Penetrance
None
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

9 Oct 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

9 Oct 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CDK4 were changed from to Melanoma, MONDO:0005105; CDK4 linked melanoma, MONDO:0022623; Melanoma cutaneous malignant susceptibility to 3, MONDO:0012183; Melanoma, cutaneous malignant, 3, MIM#609048

12 Sep 2024, Gel status: 3

Set mode of pathogenicity

Chirag Patel (Genetic Health Queensland)

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

9 Aug 2020, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CDK4 was added gene: CDK4 was added to Melanoma. Sources: SA Pathology,Expert Review Green Mode of inheritance for gene: CDK4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CDK4 were set to Melanoma, cutaneous malignant, MIM#609408