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| Cystic kidney disease v2.33 | SEC61A1 | Eleanor Williams commented on gene: SEC61A1: The mode of inheritance of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cystic kidney disease v2.32 | SEC61A1 | Eleanor Williams Source Expert list was added to SEC61A1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cystic kidney disease v2.17 | SEC61A1 | Rebecca Foulger Phenotypes for gene: SEC61A1 were changed from interstitial nephritis; chronic kidney disease; cystic kidney disease; Hyperuricemic nephropathy, familial juvenile, 4, 617056 to glomerulocystic kidney disease; interstitial nephritis; chronic kidney disease; cystic kidney disease; Hyperuricemic nephropathy, familial juvenile, 4, 617056 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cystic kidney disease v2.16 | SEC61A1 | Rebecca Foulger Phenotypes for gene: SEC61A1 were changed from interstitial nephritis; chronic kidney disease; cystic kidney disease; ator) Hyperuricemic nephropathy, familial juvenile, 4, 617056 to interstitial nephritis; chronic kidney disease; cystic kidney disease; Hyperuricemic nephropathy, familial juvenile, 4, 617056 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cystic kidney disease v2.15 | SEC61A1 | Rebecca Foulger Phenotypes for gene: SEC61A1 were changed from interstitial nephritis; chronic kidney disease; cystic kidney disease to interstitial nephritis; chronic kidney disease; cystic kidney disease; ator) Hyperuricemic nephropathy, familial juvenile, 4, 617056 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cystic kidney disease v2.14 | SEC61A1 | Rebecca Foulger Mode of inheritance for gene: SEC61A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cystic kidney disease v2.13 | SEC61A1 | Rebecca Foulger Classified gene: SEC61A1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cystic kidney disease v2.13 | SEC61A1 | Rebecca Foulger Gene: sec61a1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cystic kidney disease v2.0 | SEC61A1 |
Eleanor Williams changed review comment from: Associated with Hyperuricemic nephropathy, familial juvenile, 4, #617056 (AD) in OMIM. PMID: 27392076 - Bolar et al 2016 - report on two families with Autosomal-dominant tubulo-interstitial kidney disease (ADTKD) and congenital anemia accompanied by either intrauterine growth retardation or neutropenia. The father in family B had multiple bilateral simple cysts throughout the kidney. In both families heterozygous missense variants in SEC61A1 were identified - c.553A>G (p.Thr185Ala) and c.200T>G (p.Val67Gly) -both affecting functionally important and conserved residues in SEC61. Functional studies support the renal function for this gene. PMID: 31488840- Devuyst et al 2019 - a primer that highlights the different types of ADTKD - no new cases Summary - 1 case reported with kidney cysts; to: Associated with Hyperuricemic nephropathy, familial juvenile, 4, #617056 (AD) in OMIM. PMID: 27392076 - Bolar et al 2016 - report on two families with Autosomal-dominant tubulo-interstitial kidney disease (ADTKD) and congenital anemia accompanied by either intrauterine growth retardation or neutropenia. The father in family B had multiple bilateral simple cysts throughout the kidney. In both families heterozygous missense variants in SEC61A1 were identified - c.553A>G (p.Thr185Ala) and c.200T>G (p.Val67Gly) -both affecting functionally important and conserved residues in SEC61. Functional studies support the renal function for this gene. PMID: 31488840- Devuyst et al 2019 - a primer that highlights the different types of ADTKD - no new cases PMID: 30586318 - Groopman et al 2018 - report 1 case with a heterozygous missense variant in SEC61A1 (p.I428M). The clinical diagnosis was 'Congenital or cystic renal disease' and the genetic diagnosis 'Hyperuricemic nephropathy familial juvenile 4' (See TableS7). Summary - 2 cases reported with kidney cysts |
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| Cystic kidney disease v2.0 | SEC61A1 | Eleanor Williams reviewed gene: SEC61A1: Rating: AMBER; Mode of pathogenicity: None; Publications: 27392076; Phenotypes: Hyperuricemic nephropathy, familial juvenile, 4, 617056; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cystic kidney disease v2.0 | SEC61A1 | John Sayer edited their review of gene: SEC61A1: Changed phenotypes: interstitial nephritis, chronic kidney disease, cystic kidney disease, anaemia, glomerulocystic kidney disease | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cystic kidney disease v2.0 | SEC61A1 |
John Sayer gene: SEC61A1 was added gene: SEC61A1 was added to Cystic kidney disease. Sources: Expert Review Mode of inheritance for gene: SEC61A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SEC61A1 were set to 31488840; 27392076 Phenotypes for gene: SEC61A1 were set to interstitial nephritis; chronic kidney disease; cystic kidney disease Review for gene: SEC61A1 was set to GREEN Added comment: Sources: Expert Review |
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