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| Mendeliome v0.12445 | SLC34A1 |
Zornitza Stark changed review comment from: Infantile hypercalcaemia and bi-allelic variants: More than 5 unrelated families reported. Nephrolithiasis and mono-allelic variants: multiple families reported.; to: Infantile hypercalcaemia and bi-allelic variants: More than 5 unrelated families reported. Nephrolithiasis and mono-allelic variants: multiple families reported. Single family reported with renal Fanconi and homozygous variant. |
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| Mendeliome v0.12445 | SLC34A1 | Zornitza Stark Marked gene: SLC34A1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.12445 | SLC34A1 | Zornitza Stark Gene: slc34a1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.12445 | SLC34A1 | Zornitza Stark Phenotypes for gene: SLC34A1 were changed from to Hypercalcaemia, infantile, 2 MIM#616963; Nephrolithiasis/osteoporosis, hypophosphatemic, 1 612286 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.12444 | SLC34A1 | Zornitza Stark Publications for gene: SLC34A1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.12443 | SLC34A1 | Zornitza Stark Mode of inheritance for gene: SLC34A1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.12442 | SLC34A1 | Zornitza Stark reviewed gene: SLC34A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26047794, 33516786, 33099630, 32866123, 31188746, 30943683, 12324554, 32216560, 30778725; Phenotypes: Hypercalcaemia, infantile, 2 MIM#616963, Nephrolithiasis/osteoporosis, hypophosphatemic, 1 612286; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.0 | SLC34A1 |
Zornitza Stark gene: SLC34A1 was added gene: SLC34A1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SLC34A1 was set to Unknown |
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