CDKN1B

cyclin dependent kinase inhibitor 1B
OMIM: 600778, Gene2Phenotype

11 panels

Panel Reviews Mode of inheritance Details
11 panels
Red CDKN1B in Parathyroid Cancer

Level 3: Breast and endocrine
Level 2: Tumour syndromes
Version 1.5

review Not set
Sources
  • UKGTN
Phenotypes
  • Multiple endocrine neoplasia, type IV, OMIM:610755
  • Pituitary Cancer, Parathyroid and Hypercalcemia
Green CDKN1B in Neuroendocrine cancer pertinent cancer susceptibility

Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 1.5

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Multiple endocrine neoplasia, type IV, OMIM:610755
Green CDKN1B in Thyroid cancer pertinent cancer susceptibility

Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 1.4

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Multiple endocrine neoplasia, type IV, OMIM:610755
  • Thyroid cancer
  • Pituitary adenoma
Green CDKN1B in Adult solid tumours for rare disease

Level 3: Tumour syndromes
Level 2: Tumour syndromes
Version 1.42

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Multiple endocrine neoplasia, type IV, OMIM:610755
  • Thyroid cancer
  • Pituitary adenoma
Red CDKN1B in COVID-19 research


Level 2: Viral research
Version 1.147

review Unknown
Sources
  • Expert list
  • OMIM
  • Expert Review Red
Green CDKN1B in Familial hyperparathyroidism or hypocalciuric hypercalcaemia


Level 2: Endocrinology
Version 3.7
Latest signed off version: v3.2 (30 Nov 2022)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Emory Genetics Laboratory
Phenotypes
  • Multiple endocrine neoplasia, type IV, OMIM:610755
Green CDKN1B in Multiple endocrine tumours

Level 3: Breast and endocrine
Level 2: Tumour syndromes
Version 1.15

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Multiple endocrine neoplasia, type IV, OMIM:610755
Red CDKN1B in Inherited phaeochromocytoma and paraganglioma

Level 3: Breast and endocrine
Level 2: Tumour syndromes
Version 1.12

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Multiple Endocrine Neoplasia
Green CDKN1B in Endocrine neoplasia


Level 2: Endocrinology
Version 3.4
Latest signed off version: v3.0 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Multiple endocrine neoplasia, type IV, OMIM:610755
Green CDKN1B in Adult solid tumours cancer susceptibility


Level 2: Cancer susceptibility
Version 2.35
Latest signed off version: v2.2 (18 Feb 2020)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
Phenotypes
  • Multiple endocrine neoplasia, type IV, OMIM:610755
  • Thyroid cancer
  • Pituitary adenoma
Red CDKN1B in Monogenic hearing loss


Level 2: Audiology
Version 5.64
Latest signed off version: v5.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders
  • review Not set
    Sources
    • Expert