Inherited 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 10 panels

4 reviews

Arina Puzriakova (Genomics England Curator)

Comment on phenotypes: This gene is also associated with {Melanoma and neural system tumor syndrome} (MIM# 155755) and {Melanoma, cutaneous malignant, 2} (MIM# 155601)
Created: 3 Mar 2021, 2:03 p.m. | Last Modified: 3 Mar 2021, 2:03 p.m.
Panel Version: 1.6

Rachel Robinson (Leeds Genetics Laboratory)

Green List (high evidence)

Publications

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

Lara Hawkes (Genomics England)

Green List (high evidence)

Clare Turnbull (Queen Mary University London)

Green List (high evidence)

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

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

Phenotypes
Familial Malignant Melanoma and Tumors of the Nervous system, Familial Uveal Melanoma

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
  • Expert List
Phenotypes
  • {Melanoma-pancreatic cancer syndrome}, OMIM:606719
  • Melanoma-pancreatic cancer syndrome, MONDO:0011713
OMIM
600160
Clinvar variants
Variants in CDKN2A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Apr 2021, Gel status: 3

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: CDKN2A were set to 30558719

3 Mar 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: CDKN2A were changed from to {Melanoma-pancreatic cancer syndrome}, OMIM:606719; Melanoma-pancreatic cancer syndrome, MONDO:0011713

15 Oct 2019, Gel status: 3

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: CDKN2A were set to

30 Jan 2019, Gel status: 3

Set mode of inheritance

Ivone Leong (Genomics England Curator)

Mode of inheritance for gene: CDKN2A 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: cdkn2a 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: CDKN2A was added gene: CDKN2A was added to Inherited pancreatic cancer. Sources: Expert List,NHS GMS Mode of inheritance for gene: CDKN2A was set to