| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.28 | CDC73 | Ivone Leong commented on gene: CDC73: 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 v0.12 | CDC73 | Ivone Leong Publications for gene: CDC73 were set to 12434154; 15531515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.11 | CDC73 | Treena Cranston reviewed gene: CDC73: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20052758, PMID: 28740527; Phenotypes: Familial isolated hyperparathyroidism, Hyperparathyroidism Jaw Tumour syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.11 | CDC73 | Ivone Leong Marked gene: CDC73 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.11 | CDC73 | Ivone Leong Gene: cdc73 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.1 | CDC73 | Ivone Leong commented on gene: CDC73 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.1 | CDC73 |
Ivone Leong gene: CDC73 was added gene: CDC73 was added to Familial hyperparathyroidism. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: CDC73 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CDC73 were set to 12434154; 15531515 Phenotypes for gene: CDC73 were set to Hyperparathyroidism, familial primary (145000); Hyperparathyroidism-jaw tumor syndrome (145001) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||