CDKN1B:Ensemblv90

cyclin dependent kinase inhibitor 1B
OMIM: 600778, ClinGen, DECIPHER

15 panels

Panel Reviews Mode of inheritance Details
15 panels

Green CDKN1B in Hypercalcaemia


Level 2: Endocrine disorders
Version 1.2

1 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 1.3802

1 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 1.29

3 reviews 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 Additional findings_Adult


Level 2: Screening
Version 1.130

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

Red CDKN1B in CGC_86


Version 0.3

0 reviews Other
Sources
  • CGC_86
Phenotypes
  • Multiple endocrine neoplasia, type 4

Red CDKN1B in NCGC


Version 0.3

0 reviews Other
Sources
  • NCGC
Phenotypes
  • Multiple endocrine neoplasia, type 4

Red CDKN1B in TCGA_PANCAN_2018


Version 0.3

0 reviews Other
Sources
  • TCGA_PANCAN_2018
Phenotypes
  • Multiple endocrine neoplasia, type 4

Green CDKN1B in Renal Tubulopathies and related disorders


Level 2: Renal and urinary tract disorders
Version 1.22

Component of the following Super Panels:

  • Kidneyome_SuperPanel
  • 3 reviews 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

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

    Green CDKN1B in Hypercalcaemia


    Level 2: Endocrine disorders
    Version 2.0

    1 review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Literature
    • Expert Review Green
    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 2.0

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

    Green CDKN1B in Additional findings_Adult


    Level 2: Screening
    Version 2.0

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

    Red CDKN1B in TCGA_PANCAN_2018


    Version 1.0

    0 reviews Other
    Sources
    • TCGA_PANCAN_2018
    Phenotypes
    • Multiple endocrine neoplasia, type 4

    Green CDKN1B in Renal Tubulopathies and related disorders


    Level 2: Renal and urinary tract disorders
    Version 2.0

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

    Amber CDKN1B in Facial papules


    Level 2: Dermatological disorders
    Version 2.0

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