Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Severe Paediatric Disorders v0.17 | CASR | Louise Daugherty Mode of inheritance for gene CASR was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.12 | CASR | Louise Daugherty reviewed gene: CASR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | CASR | Louise Daugherty Publications for gene CASR were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.10 | CASR | Louise Daugherty Added phenotypes Hyperparathyroidism, neonatal, 239200; Hypocalcemia, autosomal dominant, with Bartter syndrome, 601198; Hypocalciuric hypercalcemia, type I, 145980; Hypocalcemia, autosomal dominant, 601198 for gene: CASR | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | CASR | Louise Daugherty Added phenotypes Hyperparathyroidism, neonatal, 239200; Hypocalcemia, autosomal dominant, with Bartter syndrome, 601198; Hypocalciuric hypercalcemia, type I, 145980; Hypocalcemia, autosomal dominant, 601198 for gene: CASR | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | CASR | Louise Daugherty Added phenotypes Hyperparathyroidism, neonatal, 239200; Hypocalcemia, autosomal dominant, with Bartter syndrome, 601198; Hypocalciuric hypercalcemia, type I, 145980; Hypocalcemia, autosomal dominant, 601198 for gene: CASR | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | CASR | Louise Daugherty Added phenotypes Hypocalcemia, autosomal dominant, 601198; Hyperparathyroidism, neonatal, 239200; Hypocalciuric hypercalcemia, type I, 145980; Hypocalcemia, autosomal dominant, with Bartter syndrome, 601198 for gene: CASR | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.7 | CASR | Louise Daugherty Source Next Generation Children Project was added to CASR. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.5 | CASR |
Louise Daugherty Source Expert Review Green was added to CASR. Rating Changed from Red List (low evidence) to Green List (high evidence) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.4 | CASR |
Louise Daugherty gene: CASR was added gene: CASR was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: CASR was set to |