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| Unexplained young onset end-stage renal disease v4.3 | CASR | Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: CASR. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease v4.3 | CASR | Arina Puzriakova reviewed gene: CASR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease v4.2 | CASR |
Achchuthan Shanmugasundram Source Expert Review Green was added to CASR. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Unexplained young onset end-stage renal disease v3.21 | CASR | Achchuthan Shanmugasundram edited their review of gene: CASR: Changed phenotypes to: Familial Hypocalciuric Hypercalcemia, Hypocalciuric hypercalcemia, type I, 145980Hyperparathyroidism, neonatal, 239200Hypocalcemia, autosomal dominant, 601198Hypocalcemia, autosomal dominant, with Bartter syndrome, 601198{Epilepsy idiopathic generalized, susceptibility to,, Hypocalcemia (dominant), Familial Hypocalciuric Hypercalcemia (dominant), hypocalciuric hypercalcaemia | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease v3.21 | CASR | Achchuthan Shanmugasundram reviewed gene: CASR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Familial Hypocalciuric Hypercalcemia, Hypocalcemia (dominant), hypocalciuric hypercalcaemia, Familial Hypocalciuric Hypercalcemia (dominant), Hypocalciuric hypercalcemia, type I, 145980Hyperparathyroidism, neonatal, 239200Hypocalcemia, autosomal dominant, 601198Hypocalcemia, autosomal dominant, with Bartter syndrome, 601198{Epilepsy idiopathic generalized, susceptibility to,; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease v3.17 | CASR | Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: CASR. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease v3.17 | CASR |
Achchuthan Shanmugasundram gene: CASR was added gene: CASR was added to Unexplained young onset end-stage renal disease. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: CASR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: CASR were set to Hypocalcemia (dominant); Hypocalciuric hypercalcemia, type I, 145980Hyperparathyroidism, neonatal, 239200Hypocalcemia, autosomal dominant, 601198Hypocalcemia, autosomal dominant, with Bartter syndrome, 601198{Epilepsy idiopathic generalized, susceptibility to,; Familial Hypocalciuric Hypercalcemia (dominant); hypocalciuric hypercalcaemia; Familial Hypocalciuric Hypercalcemia Mode of pathogenicity for gene: CASR was set to Other |
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