1. Genes and Genomic Entities
  2. SEC61A1

SEC61A1

Sec61 translocon alpha 1 subunit
OMIM: 609213, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels
Green SEC61A1 in COVID-19 research


Level 2: Viral research
Version 1.146

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • IUIS Classification December 2019
  • IUIS Classification December 2019
Phenotypes
  • Severe recurrent respiratory tract infections
  • SEC61A1 deficiency
  • Hyperuricemic nephropathy, familial juvenile, 4, 617056
  • Predominantly Antibody Deficiencies
Green SEC61A1 in Tubulointerstitial kidney disease


Level 2: Renal
Version 3.15
Latest signed off version: v3.5 (30 Apr 2025)

Component of the following Super Panels:

  • Unexplained young onset end-stage renal disease

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Familial juvenile Hyperuricemic nephropathy-4 , OMIM:617056
    Amber SEC61A1 in Cystic kidney disease


    Level 2: Renal
    Version 8.5
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Cystic renal disease
  • Unexplained young onset end-stage renal disease

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert list
    • Expert Review Amber
    • Expert Review
    Phenotypes
    • glomerulocystic kidney disease
    • interstitial nephritis
    • chronic kidney disease
    • cystic kidney disease
    • Hyperuricemic nephropathy, familial juvenile, 4, 617056
    Green SEC61A1 in Primary immunodeficiency or monogenic inflammatory bowel disease


    Level 2: Immunology
    Version 8.78
    Latest signed off version: v8.0 (30 Apr 2025)

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • NHS GMS
    • IUIS Classification December 2019
    Phenotypes
    • SEC61A1 deficiency
    • Severe recurrent respiratory tract infections
    • Hyperuricemic nephropathy, familial juvenile, 4, 617056
    • Predominantly Antibody Deficiencies
    • Hypogammaglobulinaemia
    • Severe congenital neutropenia
    Amber SEC61A1 in Cytopenia - NOT Fanconi anaemia


    Level 2: Haematology
    Version 4.32
    Latest signed off version: v4.0 (30 Apr 2025)

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • severe congenital neutropenia, MONDO:0018542
    • Tubulointerstitial kidney disease, autosomal dominant, 5, OMIM:617056
    Red SEC61A1 in DDG2P


    Version 6.424
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Red
    Phenotypes
    • Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia
    Green SEC61A1 in Renal tubulopathies


    Level 2: Renal
    Version 5.11
    Latest signed off version: v5.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Unexplained young onset end-stage renal disease

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Green
    • Literature
    Phenotypes
    • hyporeninaemic hypoaldosteronism
    • autosomal dominant tubulointerstitial kidney disease