| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Familial hyperparathyroidism or hypocalciuric hypercalcaemia v2.20 | CASR | Arina Puzriakova Publications for gene: CASR were set to 15292296; 7916660; 9253359; 8675635; 25162666; 28740527 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hyperparathyroidism or hypocalciuric hypercalcaemia v2.19 | CASR | Arina Puzriakova Phenotypes for gene: CASR were changed from Hyperparathyroidism, neonatal (239200); Hypocalcemia, autosomal dominant (601198); Familial isolated hyperparathyroidism; FHH1 to Hyperparathyroidism, neonatal, OMIM:239200; Hypocalcemia, autosomal dominant, OMIM:601198; Hypocalcemia, autosomal dominant, with Bartter syndrome, OMIM:601198; Hypocalciuric hypercalcemia, type I, OMIM:145980; Familial isolated hyperparathyroidism; FHH1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.28 | CASR | Ivone Leong commented on gene: CASR: 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 v0.14 | CASR | Ivone Leong Phenotypes for gene: CASR were changed from Hyperparathyroidism, neonatal (239200); Hypocalcemia, autosomal dominant (601198) to Hyperparathyroidism, neonatal (239200); Hypocalcemia, autosomal dominant (601198); Familial isolated hyperparathyroidism; FHH1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.13 | CASR | Ivone Leong Publications for gene: CASR were set to 15292296; 7916660; 9253359; 8675635 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.11 | CASR | Treena Cranston reviewed gene: CASR: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25162666, PMID: 28740527; Phenotypes: familial isolated hyperparathyroidism, FHH1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.11 | CASR | Ivone Leong Marked gene: CASR as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.11 | CASR | Ivone Leong Gene: casr has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.1 | CASR | Ivone Leong commented on gene: CASR | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.1 | CASR |
Ivone Leong gene: CASR was added gene: CASR was added to Familial hyperparathyroidism. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: CASR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: CASR were set to 15292296; 7916660; 9253359; 8675635 Phenotypes for gene: CASR were set to Hyperparathyroidism, neonatal (239200); Hypocalcemia, autosomal dominant (601198) |
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