CDKN2A

cyclin dependent kinase inhibitor 2A
OMIM: 600160, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green CDKN2A in Mendeliome


Version 1.2374

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • {Melanoma and neural system tumor syndrome} MIM#155755
  • {Melanoma, cutaneous malignant, 2} MIM#155601
  • {Melanoma-pancreatic cancer syndrome} MIM#606719

Red CDKN2A in Cancer Predisposition_Paediatric


Level 2: Cancer
Version 0.131

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Familial Malignant Melanoma and Tumors of the Nervous system
  • Familial Uveal Melanoma
  • Pancreatic cancer

Green CDKN2A in Melanoma


Level 2: Cancer Predisposition
Version 1.1

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • SA Pathology
Phenotypes
  • Melanoma, MONDO:0005105
  • Melanoma cutaneous malignant susceptibility to 2, MONDO:0007964
  • Melanoma-pancreatic cancer syndrome, MONDO:0011713
  • Melanoma and neural system tumor syndrome, MONDO:0007967
  • Melanoma, cutaneous malignant, 2, MIM#155601
  • Melanoma-pancreatic cancer syndrome, MIM#606719
  • Melanoma and neural system tumor syndrome, MIM#155755

Amber CDKN2A in Additional findings_Paediatric


Level 2: Screening
Version 0.278

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • BabySeq Category B gene
Phenotypes
  • Melanoma

Green CDKN2A in Incidentalome_PREGEN_DRAFT


Version 0.43

review Unknown
Sources
  • NSW Health Pathology
  • Expert Review Green

Red CDKN2A in BabyScreen+ newborn screening


Level 2: Screening
Version 1.116

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • BabySeq Category B gene
Phenotypes
  • {Melanoma, cutaneous malignant, 2}, MIM# 155601

Green CDKN2A in Transplant Co-Morbidity Superpanel


Level 2: Screening
Version 0.18

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • SA Pathology

Green CDKN2A in Pancreatic Cancer


Level 2: Cancer Predisposition
Version 1.1

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
  • Expert list
Phenotypes
  • Malignant pancreatic neoplasm, MONDO:0009831
  • Melanoma-pancreatic cancer syndrome, MONDO:0011713
  • Melanoma and neural system tumor syndrome, MONDO:0007967
  • Melanoma cutaneous malignant susceptibility to 2, MONDO:0007964
  • Melanoma, cutaneous malignant, 2, MIM#155601
  • Melanoma-pancreatic cancer syndrome, MIM#606719
  • Melanoma and neural system tumor syndrome, MIM#155755