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| Renal Macrocystic Disease v0.75 | COL4A5 |
Bryony Thompson gene: COL4A5 was added gene: COL4A5 was added to Renal Macrocystic Disease. Sources: Literature 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 38790225; 38680391; 38514012 Phenotypes for gene: COL4A5 were set to Alport syndrome MONDO:0018965 Review for gene: COL4A5 was set to GREEN gene: COL4A5 was marked as current diagnostic Added comment: Multiple kidney cysts, usually with normal kidney volume, were found in 37% (26/70) of patients with a genetically confirmed AS (COL4A3-5), mostly ADAS. A few patients' kidney volumes were similar to autosomal dominant polycystic kidney disease. The prevalence of cystic kidney phenotype was significantly higher in patients with AS compared to those with IgA nephropathy (42% vs 19%; P=0.002). The cystic phenotype in the AS patients was associated with an older age and lower eGFR levels. Also, other studies reporting COL4A5 variants in individuals with a cystic kidney disease phenotype. Sources: Literature |
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| Renal Macrocystic Disease v0.73 | COL4A4 |
Bryony Thompson gene: COL4A4 was added gene: COL4A4 was added to Renal Macrocystic Disease. Sources: Literature Mode of inheritance for gene: COL4A4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: COL4A4 were set to 38514012 Phenotypes for gene: COL4A4 were set to Alport syndrome MONDO:0018965 Review for gene: COL4A4 was set to GREEN gene: COL4A4 was marked as current diagnostic Added comment: Multiple kidney cysts, usually with normal kidney volume, were found in 37% (26/70) of patients with a genetically confirmed AS (COL4A3-5), mostly ADAS. A few patients' kidney volumes were similar to autosomal dominant polycystic kidney disease. The prevalence of cystic kidney phenotype was significantly higher in patients with AS compared to those with IgA nephropathy (42% vs 19%; P=0.002). The cystic phenotype in the AS patients was associated with an older age and lower eGFR levels. Sources: Literature |
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| Renal Macrocystic Disease v0.72 | COL4A3 |
Bryony Thompson changed review comment from: PMID: 38514012 - Multiple kidney cysts, usually with normal kidney volume, were found in 37% (26/70) of patients with a genetically confirmed AS (COL4A3-5). A few patients' kidney volumes were similar to autosomal dominant polycystic kidney disease. The prevalence of cystic kidney phenotype was significantly higher in patients with AS compared to those with IgA nephropathy (42% vs 19%; P=0.002). PMID: 39190485 - Enrichment of monoallelic COL4A3 rare variants (P = 1.26e-6, OR 3.02, 95% CI 2.10-4.22) in 100K GP cystic kidney disease cohort. Enrichment in “unsolved” (eg removing PKD1 & PKD2 diagnoses), n=308 (P = 6.83e-7, OR 4.93, 95% CI 2.77-8.11). 15/1209 - 9 are Gly-altering in the collagen triple helix domain, 1 stopgain, & 5 missense/inframe indel. 4 of the COL4A3 cases had liver cysts 100K GP WGS case-control analysis: cystic kidney disease cohort n=1209 vs ancestry-matched controls n=29,096. Gene-based collapsing rare variant association with SAIGE-GENE (P<2.6e-6). Sources: Literature; to: PMID: 38514012 - Multiple kidney cysts, usually with normal kidney volume, were found in 37% (26/70) of patients with a genetically confirmed AS (COL4A3-5), mostly ADAS. A few patients' kidney volumes were similar to autosomal dominant polycystic kidney disease. The prevalence of cystic kidney phenotype was significantly higher in patients with AS compared to those with IgA nephropathy (42% vs 19%; P=0.002). The cystic phenotype in the AS patients was associated with an older age and lower eGFR levels. PMID: 39190485 - Enrichment of monoallelic COL4A3 rare variants (P = 1.26e-6, OR 3.02, 95% CI 2.10-4.22) in 100K GP cystic kidney disease cohort. Enrichment in “unsolved” (eg removing PKD1 & PKD2 diagnoses), n=308 (P = 6.83e-7, OR 4.93, 95% CI 2.77-8.11). 15/1209 - 9 are Gly-altering in the collagen triple helix domain, 1 stopgain, & 5 missense/inframe indel. 4 of the COL4A3 cases had liver cysts 100K GP WGS case-control analysis: cystic kidney disease cohort n=1209 vs ancestry-matched controls n=29,096. Gene-based collapsing rare variant association with SAIGE-GENE (P<2.6e-6). Sources: Literature |
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| Renal Macrocystic Disease v0.72 | COL4A3 | Bryony Thompson Marked gene: COL4A3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal Macrocystic Disease v0.72 | COL4A3 | Bryony Thompson Gene: col4a3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal Macrocystic Disease v0.72 | COL4A3 | Bryony Thompson Classified gene: COL4A3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal Macrocystic Disease v0.72 | COL4A3 | Bryony Thompson Gene: col4a3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal Macrocystic Disease v0.71 | COL4A3 |
Bryony Thompson gene: COL4A3 was added gene: COL4A3 was added to Renal Macrocystic Disease. Sources: Literature Mode of inheritance for gene: COL4A3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: COL4A3 were set to 39190485; 38514012 Phenotypes for gene: COL4A3 were set to Alport syndrome MONDO:0018965 Review for gene: COL4A3 was set to GREEN gene: COL4A3 was marked as current diagnostic Added comment: PMID: 38514012 - Multiple kidney cysts, usually with normal kidney volume, were found in 37% (26/70) of patients with a genetically confirmed AS (COL4A3-5). A few patients' kidney volumes were similar to autosomal dominant polycystic kidney disease. The prevalence of cystic kidney phenotype was significantly higher in patients with AS compared to those with IgA nephropathy (42% vs 19%; P=0.002). PMID: 39190485 - Enrichment of monoallelic COL4A3 rare variants (P = 1.26e-6, OR 3.02, 95% CI 2.10-4.22) in 100K GP cystic kidney disease cohort. Enrichment in “unsolved” (eg removing PKD1 & PKD2 diagnoses), n=308 (P = 6.83e-7, OR 4.93, 95% CI 2.77-8.11). 15/1209 - 9 are Gly-altering in the collagen triple helix domain, 1 stopgain, & 5 missense/inframe indel. 4 of the COL4A3 cases had liver cysts 100K GP WGS case-control analysis: cystic kidney disease cohort n=1209 vs ancestry-matched controls n=29,096. Gene-based collapsing rare variant association with SAIGE-GENE (P<2.6e-6). Sources: Literature |
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