Familial hyperparathyroidism or hypocalciuric hypercalcaemia
Gene: CDKN1B
In MEN4 hyperparathyroidism is often the presenting featureCreated: 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
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.
Phenotypes for gene: CDKN1B were changed from Multiple endocrine neoplasia, type IV (610755) to Multiple endocrine neoplasia, type IV, OMIM:610755
Ivone Leong: CDKN1B is confirmed to be asso
Publications for gene: CDKN1B were set to
Gene: cdkn1b has been classified as Green List (High Evidence).
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)