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| Cystic kidney disease v2.33 | COL4A4 | Eleanor Williams Tag for-review was removed from gene: COL4A4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cystic kidney disease v2.33 | COL4A4 | Eleanor Williams commented on gene: COL4A4: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed. The reviewers note that only 1 patient reported where they would be classed as AD-PKD. The other 3 are primarily TBMN patients who also have renal cysts. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cystic kidney disease v2.27 | COL4A4 | Arina Puzriakova Phenotypes for gene: COL4A4 were changed from Cystic kidney disease, MONDO:0002473 to Cystic kidney disease, MONDO:0002473 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cystic kidney disease v2.27 | COL4A4 | Arina Puzriakova Phenotypes for gene: COL4A4 were changed from cystic kidney disease MONDO:0002473 to Cystic kidney disease, MONDO:0002473 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cystic kidney disease v2.23 | COL4A4 | Eleanor Williams edited their review of gene: COL4A4: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cystic kidney disease v2.23 | COL4A4 | Ivone Leong Tag for-review tag was added to gene: COL4A4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cystic kidney disease v2.21 | COL4A4 | Eleanor Williams Classified gene: COL4A4 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cystic kidney disease v2.21 | COL4A4 | Eleanor Williams Added comment: Comment on list classification: Promoting this gene from grey to amber, but there are 3 cases so could be promoted to green following GMS review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cystic kidney disease v2.21 | COL4A4 | Eleanor Williams Gene: col4a4 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cystic kidney disease v2.20 | COL4A4 | Eleanor Williams Phenotypes for gene: COL4A4 were changed from cystic kidney disease to cystic kidney disease MONDO:0002473 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cystic kidney disease v2.19 | COL4A4 | Eleanor Williams reviewed gene: COL4A4: Rating: AMBER; Mode of pathogenicity: None; Publications: 31922066; Phenotypes: cystic kidney disease MONDO:0002473; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cystic kidney disease v2.17 | COL4A4 |
John Sayer gene: COL4A4 was added gene: COL4A4 was added to Cystic kidney disease. Sources: Other Mode of inheritance for gene: COL4A4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: COL4A4 were set to 31922066 Phenotypes for gene: COL4A4 were set to cystic kidney disease Penetrance for gene: COL4A4 were set to unknown Review for gene: COL4A4 was set to AMBER Added comment: may phenocopy PKD1 Sources: Other |
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