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| Cystic kidney disease v2.23 | COL4A5 | Eleanor Williams commented on gene: COL4A5: Removed 'for-review' tag as only 1 case, so red rating. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cystic kidney disease v2.23 | COL4A5 | Eleanor Williams Tag for-review was removed from gene: COL4A5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cystic kidney disease v2.23 | COL4A5 | Eleanor Williams Tag for-review tag was added to gene: COL4A5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cystic kidney disease v2.23 | COL4A5 | Eleanor Williams Phenotypes for gene: COL4A5 were changed from cystic kidney disease to cystic kidney disease MONDO:0002473 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cystic kidney disease v2.22 | COL4A5 | Eleanor Williams Classified gene: COL4A5 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cystic kidney disease v2.22 | COL4A5 | Eleanor Williams Added comment: Comment on list classification: Promoting from grey to red, as there is one reported case. But noting the green review from expert reviewer John Sayer, marking this gene as 'for-review' by the GMS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cystic kidney disease v2.22 | COL4A5 | Eleanor Williams Gene: col4a5 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cystic kidney disease v2.21 | COL4A5 | Eleanor Williams changed review comment from: PMID: 31922066 - Gulati et al 2019 - through WES they identified 1 female patient with Thin glomerular basement membrane (TBM) disease and bilateral kidney cysts was heterozygous for a COL4A5 likely pathogenic missense variant (c.C899T: p. P300L); to: PMID: 31922066 - Gulati et al 2019 - through WES they identified 1 female patient with Thin glomerular basement membrane (TBM) disease and bilateral kidney cysts that was heterozygous for a COL4A5 likely pathogenic missense variant (c.C899T: p. P300L) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cystic kidney disease v2.21 | COL4A5 | Eleanor Williams reviewed gene: COL4A5: Rating: ; Mode of pathogenicity: None; Publications: 31922066; Phenotypes: cystic kidney disease MONDO:0002473; 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 v2.17 | COL4A5 |
John Sayer changed review comment from: COLA5 may cause mild cystic kidney disease Sources: Other; to: COL4A5 may cause mild cystic kidney disease Sources: Other |
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| Cystic kidney disease v2.17 | COL4A5 |
John Sayer gene: COL4A5 was added gene: COL4A5 was added to Cystic kidney disease. Sources: Other Mode of inheritance for gene: COL4A5 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: COL4A5 were set to 31922066 Phenotypes for gene: COL4A5 were set to cystic kidney disease Penetrance for gene: COL4A5 were set to unknown Review for gene: COL4A5 was set to GREEN Added comment: COLA5 may cause mild cystic kidney disease Sources: Other |
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