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  3. CDKN2A
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Adult solid tumours cancer susceptibility

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

2 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

As discussed at the Genomics Cancer Panel Workshop, 16th July 2019: the group agreed that there is enough evidence to rate this gene green
Created: 2 Aug 2019, 12:34 p.m. | Last Modified: 2 Aug 2019, 12:34 p.m.
Panel Version: 1.5
Created: 2 Aug 2019, 12:34 p.m.
Last Modified: 2 Aug 2019, 12:34 p.m.
Panel version: 1.5

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

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

Panel version: 0.2

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • 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

History Filter Activity

14 Apr 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: CDKN2A were changed from Familial Malignant Melanoma and Tumors of the Nervous system, Familial Uveal Melanoma to {Melanoma, cutaneous malignant, 2}, OMIM:155601; {Melanoma and neural system tumor syndrome}, OMIM:155755; {Melanoma-pancreatic cancer syndrome}, OMIM:606719

2 Aug 2019, Gel status: 3

Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to CDKN2A.

7 Sep 2018, Gel status: 3

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Clare Turnbull: Tumor Suppressor.

5 Jul 2017, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

CDKN2A was added to Adult solid tumourspanel. Source: Expert Review Green

5 Jul 2017, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

CDKN2A was added to Adult solid tumourspanel. Sources: Expert list

5 Jul 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

CDKN2A was created by ellenmcdonagh