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| Calcium and Phosphate disorders v1.24 | SGK3 | Bryony Thompson Marked gene: SGK3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Calcium and Phosphate disorders v1.24 | SGK3 | Bryony Thompson Gene: sgk3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Calcium and Phosphate disorders v1.24 | SGK3 |
Bryony Thompson gene: SGK3 was added gene: SGK3 was added to Calcium and Phosphate disorders. 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; 21451460 Phenotypes for gene: SGK3 were set to Hypophosphatemic rickets Review for gene: SGK3 was set to RED Added comment: SGK3 c.979-96T>A reported to segregate in the single family is more common in gnomAD v4.1 than expected for a dominant disease: global allele frequency of 0.004729 (0.5%, 5,882/1,243,870 alleles, 27 homozygotes in gnomAD v4.1). A knockout mouse model had decreased bone density and increased phosphaturia. Sources: Literature |
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