Melanoma pertinent cancer susceptibility
Gene: CDKN2A
CDKN2A (cyclin dependent kinase inhibitor 2A)
EnsemblGeneIds (GRCh38): ENSG00000147889
EnsemblGeneIds (GRCh37): ENSG00000147889
OMIM: 600160, Gene2Phenotype
CDKN2A is in 12 panels
EnsemblGeneIds (GRCh38): ENSG00000147889
EnsemblGeneIds (GRCh37): ENSG00000147889
OMIM: 600160, Gene2Phenotype
CDKN2A is in 12 panels
2 reviews
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.
Clare Turnbull (Queen Mary University London)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Malignant Melanoma
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- {Melanoma, cutaneous malignant, 2}, OMIM:155601
- {Melanoma and neural system tumor syndrome}, OMIM:155755
- {Melanoma-pancreatic cancer syndrome}, OMIM:606719
- OMIM
- 600160
- Clinvar variants
- Variants in CDKN2A
- Penetrance
- Complete
- 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
9 Jan 2024, Gel status: 3
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: CDKN2A were changed from Malignant Melanoma to {Melanoma, cutaneous malignant, 2}, OMIM:155601; {Melanoma and neural system tumor syndrome}, OMIM:155755; {Melanoma-pancreatic cancer syndrome}, OMIM:606719
7 Sep 2018, Gel status: 3
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Ellen McDonagh: Comment on list classification
26 Jul 2017, Gel status: 4
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
19 Jul 2017, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)CDKN2A was added to Melanomapanel. Sources: Expert list
19 Jul 2017, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)CDKN2A was created by ellenmcdonagh