CDKN2A

cyclin dependent kinase inhibitor 2A
OMIM: 600160, Gene2Phenotype

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Green CDKN2A in Melanoma pertinent cancer susceptibility Level 3: Pertinent cancer susceptibility gene panel Level 2: Cancer Programme Version 1.2	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 1.40	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 1.22	review	Not set	Sources Emory Genetics Laboratory Phenotypes Gastrointestinal and Colorectal Cancer
Amber CDKN2A in Childhood solid tumours Level 3: Childhood Tumours Level 2: Tumour syndromes Version 4.18 Latest signed off version: v4.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Expert Review Phenotypes {Melanoma, cutaneous malignant, 2}, OMIM:155601 {Melanoma and neural system tumor syndrome}, OMIM:155755 {Melanoma-pancreatic cancer syndrome}, OMIM:606719 Tags Q4_23_promote_green Q4_23_NHS_review
Green CDKN2A in Familial melanoma Version 2.4 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 Version 2.3 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-pancreatic cancer syndrome}, OMIM:606719 Melanoma-pancreatic cancer syndrome, MONDO:0011713
Green CDKN2A in Pigmentary skin disorders Version 3.12 Latest signed off version: v3.0 (22 Mar 2023)	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 3: Anterior segment abnormalities Level 2: Ophthalmological disorders Version 4.12 Latest signed off version: v4.0 (22 Mar 2023)	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 1.118	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 Version 2.4 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 3: Pertinent cancer susceptibility gene panel Level 2: Cancer Programme Version 2.29 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