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Familial melanoma

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

5 reviews

Ivone Leong (Genomics England Curator)

As discussed in the GMS Inherited Cancer Specialist Test Group webex call 31st Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Created: 31 Jul 2019, 12:54 p.m. | Last Modified: 31 Jul 2019, 12:54 p.m.
Panel Version: 0.23

Rachel Robinson (Leeds Genetics Laboratory)

Green List (high evidence)

Variants in this GENE are reported as part of current diagnostic practice

Lara Hawkes (Genomics England)

Green List (high evidence)

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)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Malignant Melanoma

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
  • 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
None
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 to {Melanoma, cutaneous malignant, 2}, OMIM:155601; {Melanoma and neural system tumor syndrome}, OMIM:155755; {Melanoma-pancreatic cancer syndrome}, OMIM:606719

30 Jan 2019, Gel status: 3

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

30 Jan 2019, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: cdkn2a has been classified as Green List (High Evidence).

30 Jan 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Ivone Leong (Genomics England Curator)

gene: CDKN2A was added gene: CDKN2A was added to Familial melanoma. Sources: Expert List,NHS GMS Mode of inheritance for gene: CDKN2A was set to