Activity
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15 actions
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| Cystic kidney disease v7.4 | COL4A3 |
Arina Puzriakova Added comment: Comment on list classification: There is some evidence that shows some patients with COL4A3-related Alport syndrome have multicystic kidney disease (MKD). PMID: 38178635 - Bada-Bosch et al 2024 - at least 8 unrelated individuals with heterozygous LP/P variants in the COL4A3 and MKD. However, a substantial proportion of AD Alport Syndrome patients maintain normal kidney function throughout life and the factors underlying the development of kidney disease remain incompletely understood. Rating Amber given that inclusion of other Alport genes COL4A4/5 on this panel was rejected on GMS expert review but monitoring of this association should be continued (added watchlist tag). |
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| Cystic kidney disease v7.2 | COL4A4 | Arina Puzriakova Publications for gene: COL4A4 were set to 31922066 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cystic kidney disease v5.8 | COL4A4 |
John Sayer changed review comment from: may phenocopy PKD1 Sources: Other; to: may phenocopy PKD1 Sources: Other additional new publication PMID: 38178635 |
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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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