| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Hypophosphataemia or rickets v0.47 | SLC34A1 |
Chirag Patel Source Victorian Clinical Genetics Services was removed from SLC34A1. Source Expert List was added to SLC34A1. Mode of inheritance for gene SLC34A1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: SLC34A1 were changed from to Nephrolithiasis/osteoporosis, hypophosphatemic, 1, MIM#612286 Publications for gene SLC34A1 were changed from 12324554, 25050900, 9560283 to 12324554, 25050900, 9560283 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypophosphataemia or rickets v0.46 | SLC34A1 | Chirag Patel reviewed gene: SLC34A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12324554, 25050900, 9560283; Phenotypes: Nephrolithiasis/osteoporosis, hypophosphatemic, 1, MIM#612286; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypophosphataemia or rickets v0.0 | SLC34A1 |
Zornitza Stark gene: SLC34A1 was added gene: SLC34A1 was added to Hypophosphataemic Rickets_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SLC34A1 was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||