Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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) |