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| Nephrocalcinosis or nephrolithiasis v3.4 | SLC34A3 |
Sarah Leigh Tag Q3_22_MOI was removed from gene: SLC34A3. Tag Q3_22_NHS_review was removed from gene: SLC34A3. |
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| Nephrocalcinosis or nephrolithiasis v3.4 | SLC34A3 | Sarah Leigh commented on gene: SLC34A3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Nephrocalcinosis or nephrolithiasis v3.3 | SLC34A3 |
Sarah Leigh Source NHS GMS was added to SLC34A3. Mode of inheritance for gene SLC34A3 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal |
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| Nephrocalcinosis or nephrolithiasis v2.36 | SLC34A3 |
Eleanor Williams Tag Q3_22_MOI tag was added to gene: SLC34A3. Tag Q3_22_NHS_review tag was added to gene: SLC34A3. |
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| Nephrocalcinosis or nephrolithiasis v2.36 | SLC34A3 | Eleanor Williams Phenotypes for gene: SLC34A3 were changed from Hypophosphatemic rickets with hypercalciuria, 241530; HHRH; recent publication added nephrolithiasis. to Hypophosphatemic rickets with hypercalciuria, OMIM:241530; HHRH; hereditary hypophosphatemic rickets with hypercalciuria, MONDO:0009431 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Nephrocalcinosis or nephrolithiasis v2.35 | SLC34A3 | Eleanor Williams Publications for gene: SLC34A3 were set to 25296721; 26543054; 24924704; 24700880 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Nephrocalcinosis or nephrolithiasis v2.34 | SLC34A3 | Eleanor Williams Publications for gene: SLC34A3 were set to PMID: 25296721; 26543054; 24924704; 24700880 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Nephrocalcinosis or nephrolithiasis v2.33 | SLC34A3 | Eleanor Williams Added comment: Comment on mode of inheritance: Leaving MOI as Biallelic for now but with recommendation for change to BOTH mono and bi-allelic at the next GMS review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Nephrocalcinosis or nephrolithiasis v2.33 | SLC34A3 | Eleanor Williams Mode of inheritance for gene: SLC34A3 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Nephrocalcinosis or nephrolithiasis v2.32 | SLC34A3 | Detlef Bockenhauer reviewed gene: SLC34A3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 16358214, 27939817, 24700880, 17968493; Phenotypes: hypercalciuria, nephrocalcinosis, nephrolithiasis, hypophosphataemia; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||