Endocrine neoplasms

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

5 reviews

Ivone Leong (Genomics England Curator)

Comment when marking as ready: 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: 11 Mar 2019, 2:04 p.m.

Sian Ellard (University of Exeter Medical School)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Louise IZATT (GSTT Clinical Genetics Service)

Green List (high evidence)

Katie Snape (South London GMC)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Treena Cranston (Oxford)

Green List (high evidence)

History Filter Activity

28 Jul 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: CDKN1B were changed from Endocrine Cancer; Multiple Endocrine Neoplasia; Multiple endocrine neoplasia, type IV, 610755 to Multiple endocrine neoplasia, type IV, OMIM:610755

11 Mar 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).

11 Mar 2019, Gel status: 4

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

Ivone Leong (Genomics England Curator)

gene: CDKN1B was added gene: CDKN1B was added to Endocrine neoplasms. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: CDKN1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CDKN1B were set to Endocrine Cancer; Multiple Endocrine Neoplasia; Multiple endocrine neoplasia, type IV, 610755