Cystic kidney disease

Gene: SEC61A1

Green List (high evidence)

PMID 36478640 identified a novel variant (R236C) in SEC61A1 with proband exhibiting a polycystic liver disease but interestingly her mother had an atypical renal cystic disease phenotype with chronic renal disease. PMCID 11045896 utilised this variant to provided functional evidence to suggest an impact on both disease phenotypes. This alongside the previously reported cases should provide enough evidence for a Green status on the cystic renal disease panel.

Created: 1 Oct 2026, 12:20 p.m. | Last Modified: 1 Oct 2026, 12:20 p.m.

Panel Version: 9.3

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
cystic renal disease

Publications

• PMCID 11045796
• PMID 36478640

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