Adult solid tumours for rare disease

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

1 review

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
Phenotypes
  • Familial Malignant Melanoma and Tumors of the Nervous system, Familial Uveal Melanoma
OMIM
600160
Clinvar variants
Variants in CDKN2A
Penetrance
None
Panels with this gene

History Filter Activity

5 Mar 2018, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

5th March 2018 - promoted to version 1 after expert review and internal clinical review.

19 Dec 2017, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

CDKN2A was added to Adult solid tumours for rare disease panel. Sources: Expert Review Green,Expert list

19 Dec 2017, Gel status: 4

Created

Ellen McDonagh (Genomics England Curator)

CDKN2A was created by Ellen McDonagh