Familial tumours of the nervous system
Gene: CDKN2A

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

3 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIMs #155601, #155755 & #606719) and the OMIM records were last accessed on 29 December 2025.
Created: 29 Dec 2025, 2:40 p.m. | Last Modified: 29 Dec 2025, 2:40 p.m.

Panel Version: 2.8

Created: 29 Dec 2025, 2:40 p.m.
Last Modified: 29 Dec 2025, 2:40 p.m.
Panel version: 2.8

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

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: 10 Dec 2025, 2:25 p.m. | Last Modified: 10 Dec 2025, 2:25 p.m.

Panel Version: 2.5

Comment on list classification: This gene was reviewed by the cancer expert group and the evidence was determined as sufficient for inclusion on this panel. Therefore, it should be updated to Green at the next GMS panel update.

Melanoma and neural system tumor syndrome (OMIM:155755) associated with heterozygous variants in the CDKN2A gene is characterised by a dual predisposition to melanoma and neural system tumors, commonly astrocytoma.
Created: 13 Jun 2025, 10:51 a.m. | Last Modified: 13 Jun 2025, 10:51 a.m.

Panel Version: 2.3

Created: 13 Jun 2025, 10:51 a.m.
Last Modified: 13 Jun 2025, 10:51 a.m.
Panel version: 2.5

Terri McVeigh (Royal Marsden NHS Foundation Trust)

Green List (high evidence)

Phenotype including neural tumours discussed at Joint Dutch/UKCGG Cancer Case Meeting 2025
Sources: Expert Review, Literature
Created: 2 Jun 2025, 10:38 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
MELANOMA; PANCREATIC CANCER; ASTROCYTOMA; GLIOBLASTOMA; SCHWANNOMA; NEUROFIBROMA; MENINGIOMA; MALIGNANT PERIPHERAL NERVE SHEATH TUMOURS

Publications

Created: 2 Jun 2025, 10:38 a.m.

Panel version: 2.1

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
NHS GMS

Phenotypes

{Melanoma, cutaneous malignant, 2}, OMIM:155601
{Melanoma and neural system tumor syndrome}, OMIM:155755
{Melanoma-pancreatic cancer syndrome}, OMIM:606719
melanoma, cutaneous malignant, susceptibility to, 2, MONDO:0007964
melanoma and neural system tumor syndrome, MONDO:0007967
melanoma-pancreatic cancer syndrome, MONDO:0011713

OMIM

600160

Clinvar variants

Variants in CDKN2A

Penetrance

Incomplete

Publications

Panels with this gene

History Filter Activity

29 Dec 2025, Gel status: 3

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: CDKN2A were changed from {Melanoma and neural system tumor syndrome}, OMIM:155755; Astrocytoma; Glioblastoma; Schwannoma; Neurofibroma; Meningioma; Malignant peripheral nerve sheath tumours to {Melanoma, cutaneous malignant, 2}, OMIM:155601; {Melanoma and neural system tumor syndrome}, OMIM:155755; {Melanoma-pancreatic cancer syndrome}, OMIM:606719; melanoma, cutaneous malignant, susceptibility to, 2, MONDO:0007964; melanoma and neural system tumor syndrome, MONDO:0007967; melanoma-pancreatic cancer syndrome, MONDO:0011713

10 Dec 2025, Gel status: 3