Activity

Filter

Cancel
Date Panel Item Activity
8 actions
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v2.14 CDKN1B Arina Puzriakova Phenotypes for gene: CDKN1B were changed from Multiple endocrine neoplasia, type IV (610755) to Multiple endocrine neoplasia, type IV, OMIM:610755
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.28 CDKN1B Ivone Leong commented on gene: CDKN1B: 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.
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.15 CDKN1B Ivone Leong Publications for gene: CDKN1B were set to
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.11 CDKN1B Treena Cranston reviewed gene: CDKN1B: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25162666, PMID: 28740527; Phenotypes: MEN4; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.11 CDKN1B Ivone Leong Marked gene: CDKN1B as ready
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.11 CDKN1B Ivone Leong Gene: cdkn1b has been classified as Green List (High Evidence).
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.1 CDKN1B Ivone Leong commented on gene: CDKN1B
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.1 CDKN1B Ivone Leong 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)