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  3. CDKN2A
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Pancreatic Cancer

Gene: CDKN2A

Green List (high evidence)
CDKN2A (cyclin dependent kinase inhibitor 2A)
EnsemblGeneIds (GRCh38): ENSG00000147889
EnsemblGeneIds (GRCh37): ENSG00000147889
OMIM: 600160, Gene2Phenotype
CDKN2A is in 8 panels

1 review

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

ClinGen definitive. Pancreatic cancer reported in condition
Sources: Expert list, Expert Review
Created: 12 Sep 2024, 9:24 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Malignant pancreatic neoplasm, MONDO:0009831; Melanoma-pancreatic cancer syndrome, MONDO:0011713; Melanoma and neural system tumor syndrome, MONDO:0007967; Melanoma cutaneous malignant susceptibility to 2, MONDO:0007964; Melanoma, cutaneous malignant, 2, MIM#155601; Melanoma-pancreatic cancer syndrome, MIM#606719; Melanoma and neural system tumor syndrome, MIM#155755

Created: 12 Sep 2024, 9:24 p.m.

Panel version: 0.17

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
  • Expert list
Phenotypes
  • Malignant pancreatic neoplasm, MONDO:0009831
  • Melanoma-pancreatic cancer syndrome, MONDO:0011713
  • Melanoma and neural system tumor syndrome, MONDO:0007967
  • Melanoma cutaneous malignant susceptibility to 2, MONDO:0007964
  • Melanoma, cutaneous malignant, 2, MIM#155601
  • Melanoma-pancreatic cancer syndrome, MIM#606719
  • Melanoma and neural system tumor syndrome, MIM#155755
OMIM
600160
Clinvar variants
Variants in CDKN2A
Penetrance
None
Panels with this gene

History Filter Activity

13 Sep 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cdkn2a has been classified as Green List (High Evidence).

12 Sep 2024, Gel status: 3

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: cdkn2a has been classified as Green List (High Evidence).

12 Sep 2024, Gel status: 1

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

Chirag Patel (Genetic Health Queensland)

gene: CDKN2A was added gene: CDKN2A was added to Pancreatic Cancer. Sources: Expert list,Expert Review Mode of inheritance for gene: CDKN2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CDKN2A were set to Malignant pancreatic neoplasm, MONDO:0009831; Melanoma-pancreatic cancer syndrome, MONDO:0011713; Melanoma and neural system tumor syndrome, MONDO:0007967; Melanoma cutaneous malignant susceptibility to 2, MONDO:0007964; Melanoma, cutaneous malignant, 2, MIM#155601; Melanoma-pancreatic cancer syndrome, MIM#606719; Melanoma and neural system tumor syndrome, MIM#155755 Review for gene: CDKN2A was set to GREEN