CDKN2A

cyclin dependent kinase inhibitor 2A
OMIM: 600160, Gene2Phenotype

12 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 12 panels
Green CDKN2A in Melanoma pertinent cancer susceptibility Level 3: Pertinent cancer susceptibility gene panel Level 2: Cancer Programme Version 1.3	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources 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
Green CDKN2A in Adult solid tumours for rare disease Level 3: Tumour syndromes Level 2: Tumour syndromes Version 1.42	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Phenotypes {Melanoma, cutaneous malignant, 2}, OMIM:155601 {Melanoma and neural system tumor syndrome}, OMIM:155755 {Melanoma-pancreatic cancer syndrome}, OMIM:606719
Red CDKN2A in GI tract tumours Level 3: GI tract Level 2: Tumour syndromes Version 1.27	review	Not set	Sources Emory Genetics Laboratory Phenotypes Gastrointestinal and Colorectal Cancer
Green CDKN2A in Childhood solid tumours Level 2: Cancer susceptibility Version 5.9 Latest signed off version: v5.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green Literature Expert Review Phenotypes {Melanoma, cutaneous malignant, 2}, OMIM:155601 {Melanoma and neural system tumor syndrome}, OMIM:155755 {Melanoma-pancreatic cancer syndrome}, OMIM:606719
Green CDKN2A in Familial melanoma Level 2: Inherited cancer Version 2.5 Latest signed off version: v2.0 (30 Nov 2022)	review	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
Green CDKN2A in Inherited pancreatic cancer Level 2: Inherited cancer Version 3.2 Latest signed off version: v3.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Expert List Phenotypes {Melanoma-pancreatic cancer syndrome}, OMIM:606719 Melanoma-pancreatic cancer syndrome, MONDO:0011713
Green CDKN2A in Pigmentary skin disorders Level 2: Dermatology Version 4.13 Latest signed off version: v4.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources London North GLH 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
Red CDKN2A in Bilateral congenital or childhood onset cataracts Level 2: Ophthalmology Version 7.6 Latest signed off version: v7.0 (30 Apr 2025)	review	Not set	Sources Expert Review Red UKGTN
Red CDKN2A in Cytopenias and congenital anaemias Level 3: Anaemias and red cell disorders Level 2: Haematological disorders Version 1.123	review	Other - please specifiy in evaluation comments	Sources Expert Review Red BRIDGE consortium (NIHRBR-RD) Phenotypes Acute lymphoblastic leukemia (ALL) Tags somatic
No list CDKN2A in Multiple monogenic benign skin tumours Level 2: Dermatology Version 2.5 Latest signed off version: v2.0 (30 Nov 2022)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Removed London North GLH NHS GMS Phenotypes Melanoma susceptibility Tags curated_removed
Green CDKN2A in Adult solid tumours cancer susceptibility Level 2: Cancer susceptibility Version 2.35 Latest signed off version: v2.2 (18 Feb 2020)	review	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
Green CDKN2A in Familial tumours of the nervous system Level 2: Neurology Version 2.14 Latest signed off version: v2.0 (20 Dec 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Literature Expert Review 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