CDKN2A

cyclin dependent kinase inhibitor 2A
OMIM: 600160, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Green CDKN2A in Melanoma pertinent cancer susceptibility

Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 1.0

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Malignant Melanoma

Green CDKN2A in Adult solid tumours for rare disease

Level 3: Tumour syndromes
Level 2: Tumour syndromes
Version 1.22

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Familial Malignant Melanoma and Tumors of the Nervous system, Familial Uveal Melanoma

Red CDKN2A in GI tract tumours

Level 3: GI tract
Level 2: Tumour syndromes
Version 1.18

review Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Gastrointestinal and Colorectal Cancer

Green CDKN2A in Familial melanoma


Version 1.7
Latest signed off version: v1.2 (4 Mar 2020)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
  • Expert List

Green CDKN2A in Inherited pancreatic cancer


Version 1.17
Latest signed off version: v1.2 (4 Mar 2020)

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 1.9
Latest signed off version: v1.4 (15 Oct 2020)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2
  • CMM2
  • Melanoma susceptibility

Red CDKN2A in Cataracts

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 2.67
Latest signed off version: v2.2 (19 Feb 2020)

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 1.84

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 1.12
Latest signed off version: v1.3 (15 Oct 2020)

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 2.7
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
  • Familial Malignant Melanoma and Tumors of the Nervous system, Familial Uveal Melanoma