Renal tubulopathies
Gene: SEC61A1

SEC61A1 (Sec61 translocon alpha 1 subunit)
EnsemblGeneIds (GRCh38): ENSG00000058262
EnsemblGeneIds (GRCh37): ENSG00000058262
OMIM: 609213, Gene2Phenotype
SEC61A1 is in 7 panels

3 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Created: 31 Jan 2023, 12:39 p.m. | Last Modified: 31 Jan 2023, 12:39 p.m.

Panel Version: 3.3

Created: 31 Jan 2023, 12:39 p.m.
Last Modified: 31 Jan 2023, 12:39 p.m.
Panel version: 3.3

Eleanor Williams (Genomics England Curator)

Comment on list classification: Promoting from grey to amber. This gene should be reviewed to whether the associated disease phenotype fulfils the eligibility criteria for this panel. There are sufficient cases with Autosomal dominant tubulointerstitial kidney to rate green.
Created: 21 May 2022, 11:09 p.m. | Last Modified: 21 May 2022, 11:34 p.m.

Panel Version: 2.54

PMID:33185949 - Espino-Hernández et al 2021 - 4-year-old girl with a de novo mutation in SEC61A1 gene. She had a syndromic clinical diagnosis of ADTKD, with chronic renal disease due to a nephron number reduction with hyperuricemia associated.

PMID: 30586318 - Groopman et al 2019 - Patient CKD184 in Table S7 has a heterozygous missense variant p.I428M in SEC61A1. The genetic diagnosis was Hyperuricemic nephropathy familial juvenile 4.

PMID: 27392076 Bolar et al 2016 - report on two families with ADTKD and congenital anemia accompanied by either intrauterine growth retardation or neutropenia. Exclusion of known ADTKD genes coupled with linkage analysis, whole-exome sequencing, and targeted re-sequencing identified heterozygous missense variants in SEC61A1-c.553A>G (p.Thr185Ala) and c.200T>G (p.Val67Gly). Zebrafish model re-capitulated the phenotype and could not be rescued by mRNA with the pathogenic alleles.

PMID:31488840 - Devuyst et al 2019 - review of Autosomal dominant tubulointerstitial kidney disease that mentions Bolar et al paper.
Created: 21 May 2022, 11:05 p.m. | Last Modified: 21 May 2022, 11:05 p.m.

Panel Version: 2.50

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Publications

Created: 21 May 2022, 11:05 p.m.
Last Modified: 21 May 2022, 11:34 p.m.
Panel version: 2.50

Detlef Bockenhauer (GOSH-UCL)

Green List (high evidence)

very few patients/families reported so far, so "green" status should be reviewed carefully
Sources: Literature
Created: 19 Jan 2022, 9:04 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
hyporeninaemic hypoaldosteronism; autosomal dominant tubulointerstitial kidney disease

Publications

Created: 19 Jan 2022, 9:04 a.m.

Panel version: 2.30

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

NHS GMS
Expert Review Green

Phenotypes

hyporeninaemic hypoaldosteronism
autosomal dominant tubulointerstitial kidney disease

OMIM

609213

Clinvar variants

Variants in SEC61A1

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

31 Jan 2023, Gel status: 3

Removed Tag, Removed Tag, Removed Tag

Sarah Leigh (Genomics England Curator)

Tag Q2_22_rating was removed from gene: SEC61A1. Tag Q2_22_phenotype was removed from gene: SEC61A1. Tag Q2_22_expert_review was removed from gene: SEC61A1.

31 Jan 2023, Gel status: 3

Added New Source, Added New Source, Status Update

Sarah Leigh (Genomics England Curator)

Source Expert Review Green was added to SEC61A1. Source NHS GMS was added to SEC61A1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

25 May 2022, Gel status: 2