PanelApp
  1. Genes and Genomic Entities
  2. CDKN1B

CDKN1B

cyclin dependent kinase inhibitor 1B
OMIM: 600778, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green CDKN1B in Hypercalcaemia


Level 2: Endocrine disorders
Version 1.2

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Multiple endocrine neoplasia type 4, MEN4, OMIM #610755

Green CDKN1B in Mendeliome


Version 1.2374

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Multiple endocrine neoplasia type 4, MEN4, OMIM #610755

Green CDKN1B in Calcium and Phosphate disorders


Level 2: Renal and urinary tract disorders; Endocrine disorders
Version 1.24

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • Expert Review Green
  • Literature
Phenotypes
  • Multiple endocrine neoplasia type 4, MEN4, OMIM #610755

Green CDKN1B in Renal Tubulopathies and related disorders


Level 2: Renal and urinary tract disorders
Version 1.18

Component of the following Super Panels:

  • Kidneyome_SuperPanel

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    • Expert list
    • Expert Review Green
    • Literature
    Phenotypes
    • Multiple endocrine neoplasia type 4, MEN4, OMIM #610755

    Amber CDKN1B in Facial papules


    Level 2: Dermatological disorders
    Version 1.0

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • multiple endocrine neoplasia type 4 MONDO:0012552

    Green CDKN1B in Thyroid Cancer


    Level 2: Cancer Predisposition
    Version 1.1

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert Review
    • Expert list
    Phenotypes
    • Thyroid cancer, MONDO:0002108
    • Thyroid gland papillary carcinoma, MONDO:0005075
    • Multiple endocrine neoplasia type 4, MONDO:0012552
    • Multiple endocrine neoplasia, type 4, MIM#610755

    Green CDKN1B in Parathyroid Tumour


    Level 2: Cancer Predisposition
    Version 1.2

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert Review
    • Expert list
    Phenotypes
    • Tumor of parathyroid gland, MONDO:0021360
    • Multiple endocrine neoplasia type 4, MONDO:0012552
    • Multiple endocrine neoplasia, type 4, MIM#610755

    Green CDKN1B in Pituitary Tumour


    Level 2: Cancer Predisposition
    Version 1.1

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert Review
    • Expert list
    Phenotypes
    • Pituitary tumor, MONDO:0017611
    • Pituitary gland adenoma, MONDO:0006373
    • Multiple endocrine neoplasia type 4, MONDO:0012552
    • Multiple endocrine neoplasia, type 4, MIM#610755