| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Hypophosphataemia or rickets v2.6 | SGK3 | Ivone Leong Classified gene: SGK3 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypophosphataemia or rickets v2.6 | SGK3 | Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark. As there is only 1 case there is not enough evidence to support a gene-disease assocation. This gene has been given a Red review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypophosphataemia or rickets v2.6 | SGK3 | Ivone Leong Gene: sgk3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypophosphataemia or rickets v2.5 | SGK3 |
Zornitza Stark gene: SGK3 was added gene: SGK3 was added to Hypophosphataemia or rickets. Sources: Literature Mode of inheritance for gene: SGK3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SGK3 were set to 31821448 Phenotypes for gene: SGK3 were set to Hypophosphatemic rickets Review for gene: SGK3 was set to RED Added comment: 5 individuals from one family where a splice site variant segregated with disease. Sources: Literature |
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