| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Calcium and Phosphate disorders v0.54 | ALPL | Zornitza Stark Marked gene: ALPL as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Calcium and Phosphate disorders v0.54 | ALPL | Zornitza Stark Gene: alpl has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Calcium and Phosphate disorders v0.51 | ALPL | Chirag Patel Classified gene: ALPL as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Calcium and Phosphate disorders v0.51 | ALPL | Chirag Patel Gene: alpl has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Calcium and Phosphate disorders v0.50 | ALPL |
Chirag Patel gene: ALPL was added gene: ALPL was added to Renal abnormalities of calcium and phosphate metabolism. Sources: Expert list Mode of inheritance for gene: ALPL was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Phenotypes for gene: ALPL were set to Hypophosphatasia, infantile, OMIM #241500; Hypophosphatasia, childhood, OMIM #241510; Hypophosphatasia, adult, OMIM # 146300; Odontohypophosphatasia, OMIM #146300 Review for gene: ALPL was set to GREEN Added comment: Well established association with spectrum of disease severity. Sources: Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||