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| Unexplained young onset end-stage renal disease v4.3 | SLC34A1 | Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: SLC34A1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease v4.3 | SLC34A1 | Arina Puzriakova reviewed gene: SLC34A1: 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 | SLC34A1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to SLC34A1. 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 | SLC34A1 | Achchuthan Shanmugasundram reviewed gene: SLC34A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Nephrolithiasis/osteoporosis, hypophosphatemic, 1, 612286, Hypophosphatemic Nephrolithiasis/Osteoporosis (recessive), Hypophosphatemic Nephrolithiasis/Osteoporosis, Nephrolithiasis with osteoporosis and hypophosphatemia; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease v3.18 | SLC34A1 | Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: SLC34A1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease v3.17 | SLC34A1 |
Achchuthan Shanmugasundram gene: SLC34A1 was added gene: SLC34A1 was added to Unexplained young onset end-stage renal disease. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: SLC34A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: SLC34A1 were set to Nephrolithiasis with osteoporosis and hypophosphatemia; Hypophosphatemic Nephrolithiasis/Osteoporosis (recessive); Nephrolithiasis/osteoporosis, hypophosphatemic, 1, 612286; Hypophosphatemic Nephrolithiasis/Osteoporosis |
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