Activity
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6 actions
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| Cystic kidney disease v7.4 | COL4A3 | Arina Puzriakova Tag watchlist tag was added to gene: COL4A3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cystic kidney disease v7.4 | COL4A3 | Arina Puzriakova Classified gene: COL4A3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 v7.4 | COL4A3 | Arina Puzriakova Gene: col4a3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cystic kidney disease v5.8 | COL4A3 |
John Sayer changed review comment from: evidence pointing for CDOL4A3/4/5 causing mild cystic phenotypes Sources: Research; to: evidence pointing for COL4A3/4/5 causing mild cystic phenotypes Sources: Research |
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| Cystic kidney disease v5.8 | COL4A3 |
John Sayer gene: COL4A3 was added gene: COL4A3 was added to Cystic kidney disease. Sources: Research Mode of inheritance for gene: COL4A3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: COL4A3 were set to 38178635; 35602506 Phenotypes for gene: COL4A3 were set to cystic kidney disease; proteinuria; haematuria Penetrance for gene: COL4A3 were set to Incomplete Review for gene: COL4A3 was set to RED Added comment: evidence pointing for CDOL4A3/4/5 causing mild cystic phenotypes Sources: Research |
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