Childhood solid tumours
Gene: CDKN2AEnsemblGeneIds (GRCh38): ENSG00000147889
EnsemblGeneIds (GRCh37): ENSG00000147889
OMIM: 600160, Gene2Phenotype
CDKN2A is in 12 panels
2 reviews
Arina Puzriakova (Genomics England Curator)
The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.Created: 6 Dec 2024, 10:34 a.m. | Last Modified: 6 Dec 2024, 10:34 a.m.
Panel Version: 4.20
Comment on list classification: Well-established tumour suppressor gene associated with a variety of tumours, including cutaneous melanoma, pancreatic cancer and tumours of the nervous system such as astrocytomas.
Onset is typically in adulthood but following specialist review, it was agreed that it is appropriate to include the CDKN2A gene on this panel. Rare paediatric cases are reported, as reviewed by Terri McVeigh (The Royal Marsden NHS).Created: 9 Jan 2024, 2:21 p.m. | Last Modified: 9 Jan 2024, 2:21 p.m.
Panel Version: 4.14
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Terri McVeigh (Royal Marsden NHS Foundation Trust)
Discussed at UKCGG/cancer leads meeting 06/07/2023 - agreed reasonable to include on panel
Sources: Expert Review, LiteratureCreated: 20 Dec 2023, 9:11 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
cutaneous melanoma; pancreatic cancer; astrocytomas
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- NHS GMS
- Expert Review Green
- 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
- Incomplete
- Publications
- Panels with this gene
-
- Adult solid tumours for rare disease
- Cytopenias and congenital anaemias
- GI tract tumours
- Multiple monogenic benign skin tumours
- Familial tumours of the nervous system
- Childhood solid tumours
- Adult solid tumours cancer susceptibility
- Melanoma pertinent cancer susceptibility
- Familial melanoma
- Inherited pancreatic cancer
- Pigmentary skin disorders
- Bilateral congenital or childhood onset cataracts
History Filter Activity
Removed Tag, Removed Tag
Arina Puzriakova (Genomics England Curator)Tag Q4_23_promote_green was removed from gene: CDKN2A. Tag Q4_23_NHS_review was removed from gene: CDKN2A.
Added New Source, Added New Source, Status Update
Arina Puzriakova (Genomics England Curator)Source Expert Review Green was added to CDKN2A. Source NHS GMS was added to CDKN2A. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: cdkn2a has been classified as Amber List (Moderate Evidence).
Added Tag, Added Tag
Arina Puzriakova (Genomics England Curator)Tag Q4_23_promote_green tag was added to gene: CDKN2A. Tag Q4_23_NHS_review tag was added to gene: CDKN2A.
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: CDKN2A were changed from cutaneous melanoma; pancreatic cancer; astrocytomas to {Melanoma, cutaneous malignant, 2}, OMIM:155601; {Melanoma and neural system tumor syndrome}, OMIM:155755; {Melanoma-pancreatic cancer syndrome}, OMIM:606719
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Terri McVeigh (Royal Marsden NHS Foundation Trust)gene: CDKN2A was added gene: CDKN2A was added to Childhood solid tumours. Sources: Expert Review,Literature Mode of inheritance for gene: CDKN2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CDKN2A were set to 24451801; 30207590 Phenotypes for gene: CDKN2A were set to cutaneous melanoma; pancreatic cancer; astrocytomas Penetrance for gene: CDKN2A were set to Incomplete Review for gene: CDKN2A was set to GREEN