Activity
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10 actions
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| Cystic kidney disease v6.3 | CLCN5 |
Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: CLCN5. Tag Q2_24_NHS_review was removed from gene: CLCN5. |
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| Cystic kidney disease v6.3 | CLCN5 | Achchuthan Shanmugasundram reviewed gene: CLCN5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cystic kidney disease v6.2 | CLCN5 |
Achchuthan Shanmugasundram Source NHS GMS was added to CLCN5. Source Expert Review Green was added to CLCN5. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Cystic kidney disease v5.6 | CLCN5 |
Sarah Leigh Tag Q2_24_promote_green tag was added to gene: CLCN5. Tag Q2_24_NHS_review tag was added to gene: CLCN5. |
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| Cystic kidney disease v5.6 | CLCN5 | Sarah Leigh Publications for gene: CLCN5 were set to 7922301; 37641036 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cystic kidney disease v5.5 | CLCN5 | Sarah Leigh reviewed gene: CLCN5: Rating: GREEN; Mode of pathogenicity: None; Publications: 8559248, 9259268, 9187673, 9602200, 14569459, 16041495, 16247550, 19673950; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cystic kidney disease v5.5 | CLCN5 | Sarah Leigh Phenotypes for gene: CLCN5 were changed from cystic kdiney disease; cortical cysts; medullary cysts; nephrocalcinosis; low molecular weight proteinuria; hypercalciuria to Dent disease 1, OMIM:300009; Hypophosphatemic rickets, OMIM:300554; Nephrolithiasis, type I, OMIM:310468; Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, OMIM:308990 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cystic kidney disease v5.4 | CLCN5 | Sarah Leigh Classified gene: CLCN5 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cystic kidney disease v5.4 | CLCN5 | Sarah Leigh Gene: clcn5 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cystic kidney disease v4.24 | CLCN5 |
John Sayer gene: CLCN5 was added gene: CLCN5 was added to Cystic kidney disease. Sources: Literature Mode of inheritance for gene: CLCN5 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: CLCN5 were set to 7922301; 37641036 Phenotypes for gene: CLCN5 were set to cystic kdiney disease; cortical cysts; medullary cysts; nephrocalcinosis; low molecular weight proteinuria; hypercalciuria Penetrance for gene: CLCN5 were set to Complete Review for gene: CLCN5 was set to GREEN Added comment: Oliver Wrong noted kidney cysts in 33% of his cohort and I think Dent disease is such a difficult diagnosis to make, adding it to the cystic panel will identify new cases presenting with mild cystic kidney disease Sources: Literature |
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