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| Renal tubulopathies v1.166 | SLC34A1 | Eleanor Williams Classified gene: SLC34A1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v1.166 | SLC34A1 | Eleanor Williams Added comment: Comment on list classification: After consultation with the Genomics England rare disease clinical team leaving this gene red on this panel as hypophosphatemia is covered by the 'R154 Hypophosphataemia or rickets' panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v1.166 | SLC34A1 | Eleanor Williams Gene: slc34a1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v1.165 | SLC34A1 | Eleanor Williams Publications for gene: SLC34A1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v1.164 | SLC34A1 | Eleanor Williams Mode of inheritance for gene: SLC34A1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v1.82 | SLC34A1 |
Eleanor Williams edited their review of gene: SLC34A1: Added comment: Associated with ?Fanconi renotubular syndrome 2 #613388, Hypercalcemia, infantile, 2 #616963 and Nephrolithiasis/osteoporosis, hypophosphatemic, 1 #612286 in OMIM. Gene also known as NPT2. PMID: 12324554 - Prie et al 2002 - report 2 out of 20 patients with urolithiasis or osteoporosis and persistent idiopathic hypophosphatemia associated with a decrease in maximal renal phosphate resorption with heterozygous missense mutations in SLC34A1. PMID: 20335586 - Magen et al 2010 - report an affected brother and sister from a consanguineous Arab family with Fanconi renotubular syndrome and a homozygous in-frame 21-bp duplication in SLC34A1. PMID: 26047794 - Schlingmann et al 2016 - report biallelic SLC34A1 mutations in 16 patients from 15 families with infantile hypercalcemia-2; Changed phenotypes: Hypercalcemia, infantile, 2, MIM 616963, Nephrolithiasis/osteoporosis, hypophosphatemic, 1, MIM 612286, ?Fanconi renotubular syndrome 2 MIM 613388 |
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| Renal tubulopathies v1.61 | SLC34A1 | Eleanor Williams Phenotypes for gene: SLC34A1 were changed from to Hypercalcemia, infantile, 2, MIM 616963; Nephrolithiasis/osteoporosis, hypophosphatemic, 1, 612286; ?Fanconi renotubular syndrome 2 613388 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v1.16 | SLC34A1 | Eleanor Williams reviewed gene: SLC34A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Hypercalcemia, infantile, 2, MIM 616963, Nephrolithiasis/osteoporosis, hypophosphatemic, 1, MIM 612286, ?Fanconi renotubular syndrome 2 MIM 613388; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v1.15 | SLC34A1 |
Eleanor Williams gene: SLC34A1 was added gene: SLC34A1 was added to Renal tubulopathies. Sources: NHS GMS Mode of inheritance for gene: SLC34A1 was set to |
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