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| Calcium and Phosphate disorders v1.5 | SLC4A1 | Bryony Thompson Marked gene: SLC4A1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Calcium and Phosphate disorders v1.5 | SLC4A1 | Bryony Thompson Gene: slc4a1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Calcium and Phosphate disorders v1.5 | SLC4A1 |
Bryony Thompson changed review comment from: Hypophosphataemic rickets can be a feature of condition PMID: 35738466 - 5 monoallelic & 2 biallelic cases with hypophosphataemic rickets and renal tubular dysfunction Sources: Literature; to: Hypophosphataemic rickets can be a feature of the condition PMID: 35738466 - 5 monoallelic & 2 biallelic cases with hypophosphataemic rickets and renal tubular dysfunction Sources: Literature |
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| Calcium and Phosphate disorders v1.5 | SLC4A1 | Bryony Thompson edited their review of gene: SLC4A1: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Calcium and Phosphate disorders v1.5 | SLC4A1 | Bryony Thompson Mode of inheritance for gene: SLC4A1 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Calcium and Phosphate disorders v1.4 | SLC4A1 | Bryony Thompson edited their review of gene: SLC4A1: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Calcium and Phosphate disorders v1.4 | SLC4A1 | Bryony Thompson Classified gene: SLC4A1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Calcium and Phosphate disorders v1.4 | SLC4A1 | Bryony Thompson Gene: slc4a1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Calcium and Phosphate disorders v1.3 | SLC4A1 |
Bryony Thompson gene: SLC4A1 was added gene: SLC4A1 was added to Calcium and Phosphate disorders. Sources: Literature Mode of inheritance for gene: SLC4A1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: SLC4A1 were set to 35738466 Phenotypes for gene: SLC4A1 were set to renal tubular acidosis, distal, 4, with hemolytic anemia MONDO:0012700 Review for gene: SLC4A1 was set to GREEN gene: SLC4A1 was marked as current diagnostic Added comment: Hypophosphataemic rickets can be a feature of condition PMID: 35738466 - 5 monoallelic & 2 biallelic cases with hypophosphataemic rickets and renal tubular dysfunction Sources: Literature |
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