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  3. CDKN2A
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Multiple Tumours

Gene: CDKN2A

Green List (high evidence)
CDKN2A (cyclin dependent kinase inhibitor 2A)
EnsemblGeneIds (GRCh38): ENSG00000147889
EnsemblGeneIds (GRCh37): ENSG00000147889
OMIM: 600160, Gene2Phenotype
CDKN2A is in 12 panels

1 review

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Promoted from red to green, as this gene is reported as part of pertinent germline findings for the Cancer Programme, for Malignant Melanoma.
Created: 18 Apr 2017, 9:36 a.m.
Information from TruSight panel: Pathogenic Mutations are Inactivating.
Created: 5 Feb 2016, 11:46 a.m.
Created: 5 Feb 2016, 11:46 a.m.

Panel version: 0.2

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • TruSight Cancer Panel (Illumina)
Phenotypes
  • Melanoma(p16 and p14ARF)
  • Pancreatic cancer (p16 only)
  • Astrocytoma (p14ARF only)
  • Malignant Melanoma
OMIM
600160
Clinvar variants
Variants in CDKN2A
Penetrance
Complete
Panels with this gene

History Filter Activity

18 Apr 2017, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for CDKN2A were set to Melanoma(p16 and p14ARF); Pancreatic cancer (p16 only); Astrocytoma (p14ARF only);Malignant Melanoma

18 Apr 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).

5 Feb 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

CDKN2A was created by ellenmcdonagh

5 Feb 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

CDKN2A was added to Multiple Tumourspanel. Sources: TruSight Cancer Panel (Illumina)