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  2. Cancer Predisposition_Paediatric
  3. CDKN2A
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Cancer Predisposition_Paediatric

Gene: CDKN2A

Red List (low evidence)
CDKN2A (cyclin dependent kinase inhibitor 2A)
EnsemblGeneIds (GRCh38): ENSG00000147889
EnsemblGeneIds (GRCh37): ENSG00000147889
OMIM: 600160, Gene2Phenotype
CDKN2A is in 8 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Generally not paediatric onset.
Created: 1 Aug 2020, 7:30 a.m. | Last Modified: 1 Aug 2020, 7:30 a.m.
Panel Version: 0.35

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Familial Malignant Melanoma and Tumors of the Nervous system; Familial Uveal Melanoma; Pancreatic cancer

Created: 1 Aug 2020, 7:30 a.m.
Last Modified: 1 Aug 2020, 7:30 a.m.
Panel version: 0.35

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Familial Malignant Melanoma and Tumors of the Nervous system
  • Familial Uveal Melanoma
  • Pancreatic cancer
OMIM
600160
Clinvar variants
Variants in CDKN2A
Penetrance
None
Panels with this gene

History Filter Activity

1 Aug 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cdkn2a has been classified as Red List (Low Evidence).

1 Aug 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CDKN2A were changed from to Familial Malignant Melanoma and Tumors of the Nervous system; Familial Uveal Melanoma; Pancreatic cancer

1 Aug 2020, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: CDKN2A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

1 Aug 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cdkn2a has been classified as Red List (Low Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CDKN2A was added gene: CDKN2A was added to Paediatric Cancer Predisposition_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CDKN2A was set to Unknown