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| Renal tubulopathies v1.95 | CLCN5 | Eleanor Williams Mode of inheritance for gene: CLCN5 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v1.94 | CLCN5 | Eleanor Williams Classified gene: CLCN5 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v1.94 | CLCN5 | 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 Dent disease is covered by the 'R256 Nephrocalcinosis or nephrolithiasis' panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v1.94 | CLCN5 | Eleanor Williams Gene: clcn5 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v1.82 | CLCN5 |
Eleanor Williams commented on gene: CLCN5: Associated with Dent disease (#300009), Hypophosphatemic rickets (#300554), Nephrolithiasis, type I (#310468) and Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis (#308990) in OMIM. Many cases reported in OMIM. |
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| Renal tubulopathies v1.31 | CLCN5 | Eleanor Williams Phenotypes for gene: CLCN5 were changed from Dent disease, MIM 300009. Hypophosphatemic rickets, 300554. Nephrolithiasis, type I, 310468. Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, 308990 to Dent disease, 300009. Hypophosphatemic rickets, 300554. Nephrolithiasis, type I, 310468. Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, 308990 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v1.30 | CLCN5 | Eleanor Williams Phenotypes for gene: CLCN5 were changed from to Dent disease, MIM 300009. Hypophosphatemic rickets, 300554. Nephrolithiasis, type I, 310468. Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, 308990 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v1.16 | CLCN5 | Eleanor Williams reviewed gene: CLCN5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Dent disease, MIM 300009. Hypophosphatemic rickets, MIM 300554. Nephrolithiasis, type I, MIM 310468. Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, MIM 308990; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v1.15 | CLCN5 |
Eleanor Williams gene: CLCN5 was added gene: CLCN5 was added to Renal tubulopathies. Sources: NHS GMS Mode of inheritance for gene: CLCN5 was set to |
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