CD46

CD46 molecule
OMIM: 120920, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels
Green CD46 in COVID-19 research


Level 2: Viral research
Version 1.142

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • GRID V2.0
  • Victorian Clinical Genetics Services
  • North West GLH
  • ESID Registry 20171117
  • Expert Review Green
  • NHS GMS
  • North West GLH
  • London North GLH
  • Expert Review Green
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • ESID Registry 20171117
  • GRID V2.0
Phenotypes
  • Hemolytic uremic syndrome, atypical, susceptibility to, 2, 612922
  • atypical HUS
  • Membrane Cofactor Protein (CD46) deficiency
  • Complement Deficiencies
  • Atypical hemolytic-uremic syndrome, infections, preeclampsia
Red CD46 in Membranoproliferative glomerulonephritis including C3 glomerulopathy

Level 3: Syndromes with prominent renal abnormalities
Level 2: Renal and urinary tract disorders
Version 3.3
Latest signed off version: v3.0 (22 Mar 2023)

Component of the following Super Panels:

  • Renal superpanel - broad
  • Renal superpanel - narrow
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Expert list
    Phenotypes
    • Haemolytic uraemic syndrome
    • aHUS
    • Hemolytic uremic syndrome, atypical, susceptibility to, 2, 612922
    • C3 glomerulopathy
    • C3G
    • Immune complex MPGN
    • IC-MPGN
    Green CD46 in Atypical haemolytic uraemic syndrome

    Level 3: Syndromes with prominent renal abnormalities
    Level 2: Renal and urinary tract disorders
    Version 3.3
    Latest signed off version: v3.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Renal superpanel - broad
  • Renal superpanel - narrow
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • UKGTN
    • Illumina TruGenome Clinical Sequencing Services
    • Radboud University Medical Center, Nijmegen
    • Eligibility statement prior genetic testing
    Phenotypes
    • Hemolytic uremic syndrome, atypical, susceptibility to, 2 612922
    Green CD46 in Primary immunodeficiency or monogenic inflammatory bowel disease


    Version 4.202
    Latest signed off version: v4.0 (22 Mar 2023)

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • North West GLH
    • London North GLH
    • Expert Review Green
    • IUIS Classification February 2018
    • Victorian Clinical Genetics Services
    • ESID Registry 20171117
    • GRID V2.0
    Phenotypes
    • Hemolytic uremic syndrome, atypical, susceptibility to, 2, 612922
    • Membrane Cofactor Protein (CD46) deficiency
    • atypical HUS
    • Atypical hemolytic-uremic syndrome, infections, preeclampsia
    • Complement Deficiencies
    Green CD46 in Unexplained kidney failure in young people

    Level 3: Disorders of function
    Level 2: Renal and urinary tract disorders
    Version 1.119

    Component of the following Super Panels:

  • Renal superpanel - broad
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Illumina TruGenome Clinical Sequencing Services
    • Expert list
    • UKGTN
    • Expert Review
    Phenotypes
    • Hemolytic uremic syndrome, atypical, susceptibility to, 2 612922
    Green CD46 in Unexplained young onset end-stage renal disease


    Version 3.41
    Latest signed off version: v3.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Renal superpanel - broad
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Hemolytic uremic syndrome, atypical, susceptibility to, 2 612922
    Red CD46 in Severe Paediatric Disorders


    Version 1.184

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Red
    • Expert list
    Phenotypes
    • {Inflammatory bowel disease (Crohn disease) 10}, 611081