Inherited pancreatic cancer
Gene: CDKN2AEnsemblGeneIds (GRCh38): ENSG00000147889
EnsemblGeneIds (GRCh37): ENSG00000147889
OMIM: 600160, Gene2Phenotype
CDKN2A is in 12 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)
Publications
Variants in this GENE are reported as part of current diagnostic practice
Lara Hawkes (Genomics England)
Clare Turnbull (Queen Mary University London)
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
-
- Adult solid tumours for rare disease
- Cytopenias and congenital anaemias
- GI tract tumours
- Multiple monogenic benign skin tumours
- Familial tumours of the nervous system
- Childhood solid tumours
- Adult solid tumours cancer susceptibility
- Melanoma pertinent cancer susceptibility
- Familial melanoma
- Inherited pancreatic cancer
- Pigmentary skin disorders
- Bilateral congenital or childhood onset cataracts
History Filter Activity
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: CDKN2A were set to 30558719
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
Set publications
Rebecca Foulger (Genomics England curator)Publications for gene: CDKN2A were set to
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
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: cdkn2a has been classified as Green List (High Evidence).
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