Cystic kidney disease
Gene: SEC61A1
The mode of inheritance of this gene has been updated following NHS Genomic Medicine Service approval.Created: 7 Mar 2022, 3:39 p.m. | Last Modified: 7 Mar 2022, 3:39 p.m.
Panel Version: 2.33
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 cystsCreated: 12 Nov 2019, 10:43 p.m. | Last Modified: 13 Nov 2019, 12:28 p.m.
Panel Version: 2.0
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Hyperuricemic nephropathy, familial juvenile, 4, 617056
Publications
Sources: Expert ReviewCreated: 25 Oct 2019, 8:35 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
interstitial nephritis; chronic kidney disease; cystic kidney disease; anaemia; glomerulocystic kidney disease
Publications
Source Expert list was added to SEC61A1.
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
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
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
Mode of inheritance for gene: SEC61A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Gene: sec61a1 has been classified as Amber List (Moderate Evidence).
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