Renal tubulopathies
Gene: SEC61A1
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
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
very few patients/families reported so far, so "green" status should be reviewed carefully
Sources: LiteratureCreated: 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
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.
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)
Tag Q2_21_phenotype was removed from gene: SEC61A1. Tag Q2_21_expert_review was removed from gene: SEC61A1. Tag Q2_22_phenotype tag was added to gene: SEC61A1. Tag Q2_22_expert_review tag was added to gene: SEC61A1.
Tag Q2_21_phenotype tag was added to gene: SEC61A1.
Gene: sec61a1 has been classified as Amber List (Moderate Evidence).
Publications for gene: SEC61A1 were set to PMID: 33185949; 27392076; 31488840
Tag Q2_21_expert_review tag was added to gene: SEC61A1. Tag Q2_22_rating tag was added to gene: SEC61A1.
gene: SEC61A1 was added gene: SEC61A1 was added to Renal tubulopathies. Sources: Literature Mode of inheritance for gene: SEC61A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SEC61A1 were set to PMID: 33185949; 27392076; 31488840 Phenotypes for gene: SEC61A1 were set to hyporeninaemic hypoaldosteronism; autosomal dominant tubulointerstitial kidney disease Penetrance for gene: SEC61A1 were set to Complete Review for gene: SEC61A1 was set to GREEN