| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Calcium and Phosphate disorders v1.17 | ATP6V1B1 | Bryony Thompson Marked gene: ATP6V1B1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Calcium and Phosphate disorders v1.17 | ATP6V1B1 | Bryony Thompson Gene: atp6v1b1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Calcium and Phosphate disorders v1.17 | ATP6V1B1 | Bryony Thompson Classified gene: ATP6V1B1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Calcium and Phosphate disorders v1.17 | ATP6V1B1 | Bryony Thompson Gene: atp6v1b1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Calcium and Phosphate disorders v1.16 | ATP6V1B1 |
Bryony Thompson gene: ATP6V1B1 was added gene: ATP6V1B1 was added to Calcium and Phosphate disorders. Sources: Literature Mode of inheritance for gene: ATP6V1B1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATP6V1B1 were set to 35738466; 18386070 Phenotypes for gene: ATP6V1B1 were set to renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss MONDO:0009968 Review for gene: ATP6V1B1 was set to GREEN gene: ATP6V1B1 was marked as current diagnostic Added comment: Hypophosphataemic rickets can be a feature of the condition PMID: 35738466 - 2 homozygous & 1 Chet case with hypophosphataemic rickets and renal tubular dysfunction PMID: 18386070 - 2 siblings with distal renal tubular acidosis and hypophosphataemic rickets homozygous for a missense variant (c.242T>C p.Leu81Pro) Sources: Literature |
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