Cystic kidney disease

Gene: SEC61A1

I don't know

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 cysts

Created: 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

• 27392076

Green List (high evidence)

Sources: Expert Review

Created: 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

• 31488840
• 27392076