1. Panels
  2. Familial hyperparathyroidism or hypocalciuric hypercalcaemia
  3. CDKN1B
STRs in panel
Prev Next
Regions in panel
Prev Next

Familial hyperparathyroidism or hypocalciuric hypercalcaemia

Gene: CDKN1B

Green List (high evidence)
CDKN1B (cyclin dependent kinase inhibitor 1B)
EnsemblGeneIds (GRCh38): ENSG00000111276
EnsemblGeneIds (GRCh37): ENSG00000111276
OMIM: 600778, Gene2Phenotype
CDKN1B is in 11 panels

2 reviews

Treena Cranston (Oxford)

Green List (high evidence)

In MEN4 hyperparathyroidism is often the presenting feature
Created: 9 Jan 2019, 4:57 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
MEN4

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 9 Jan 2019, 4:57 p.m.

Panel version: 0.11

Ivone Leong (Genomics England Curator)

As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Created: 29 Jan 2019, 11:52 a.m.
CDKN1B is confirmed to be associated with type 4 multiple endocrine neoplasia on OMIM, but no phenotypes are listed on Gene2Phenotype. CDKN1B is a green gene in the Endocrine neoplasia panel (Version 1.7). There are >3 cases of unrelated patients with multiple endocrine neoplasia IV who have variants in CDKN1B on OMIM.
Created: 5 Dec 2018, 2:17 p.m.
Created: 5 Dec 2018, 2:17 p.m.

Panel version: 0.28

Details

Mode of Inheritance
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
OMIM
600778
Clinvar variants
Variants in CDKN1B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Jul 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: CDKN1B were changed from Multiple endocrine neoplasia, type IV (610755) to Multiple endocrine neoplasia, type IV, OMIM:610755

30 Jan 2019, Gel status: 3

Panel promoted to version 1.0

Ivone Leong (Genomics England Curator)

Ivone Leong: CDKN1B is confirmed to be asso

10 Jan 2019, Gel status: 3

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: CDKN1B were set to

8 Jan 2019, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: cdkn1b has been classified as Green List (High Evidence).

5 Dec 2018, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ivone Leong (Genomics England Curator)

gene: CDKN1B was added gene: CDKN1B was added to Familial hyperparathyroidism. Sources: Emory Genetics Laboratory,UKGTN,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: CDKN1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CDKN1B were set to Multiple endocrine neoplasia, type IV (610755)