PanelApp (staging)
  1. Genes and Genomic Entities
  2. SEC61A1

SEC61A1

Sec61 translocon alpha 1 subunit
OMIM: 609213, ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green SEC61A1 in Mendeliome


Version 1.2302

3 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review Amber
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Hyperuricemic nephropathy, familial juvenile, 4, MIM# 617056
  • Immunodeficiency, common variable, 15, MIM# 620670
  • Neutropenia, severe congenital, 11, autosomal dominant, MIM# 620674

Green SEC61A1 in Renal Tubulointerstitial Disease


Level 2: Renal and urinary tract disorders
Version 1.3

Component of the following Super Panels:

  • Kidneyome_SuperPanel

    		•  1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • KidGen_Tubulointerstitial v38.1.0
    Phenotypes
    • Hyperuricemic nephropathy, familial juvenile, 4, MIM# 617056

    Green SEC61A1 in Predominantly Antibody Deficiency


    Level 2: Immunological disorders
    Version 1.0

    Component of the following Super Panels:

  • Immunological disorders_SuperPanel

    		•  3 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert list
    • Expert Review Green
    • Expert list
    Phenotypes
    • Hyperuricemic nephropathy, familial juvenile, 4, MIM# 617056
    • Immunodeficiency, common variable, 15, MIM# 620670

    Green SEC61A1 in Common Variable Immunodeficiency


    Level 2: Immunological disorders
    Version 1.12

    Component of the following Super Panels:

  • Immunological disorders_SuperPanel

    		•  2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Immunodeficiency, common variable, 15, MIM# 620670

    Green SEC61A1 in Phagocyte Defects


    Level 2: Immunological disorders
    Version 1.33

    Component of the following Super Panels:

  • Immunological disorders_SuperPanel

    		•  1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    • Expert list
    Phenotypes
    • Hyperuricemic nephropathy, familial juvenile, 4, MIM# 617056
    • Neutropenia, severe congenital, 11, autosomal dominant, MIM# 620674
    • Immunodeficiency, common variable, 15, MIM# 620670