CFHR5

complement factor H related 5
OMIM: 608593, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green CFHR5 in Vasculitis


Level 2: Immunological disorders
Version 0.82

review Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Red CFHR5 in Haematuria_Alport


Level 2: Renal and urinary tract disorders
Version 1.1

Component of the following Super Panels:

  • Kidneyome_SuperPanel
  • Renal Glomerular Disease_SuperPanel
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Victorian Clinical Genetics Services
    Phenotypes
    • Nephropathy due to CFHR5 deficiency, MIM#614809
    Tags
    • SV/CNV

    Green CFHR5 in Mendeliome


    Version 1.1891

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Nephropathy due to CFHR5 deficiency, MIM#614809

    Green CFHR5 in Atypical Haemolytic Uraemic Syndrome_MPGN


    Level 2: Renal and urinary tract disorders
    Version 0.53

    Component of the following Super Panels:

  • Kidneyome_SuperPanel
  • review Unknown
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Expert Review Green
    Tags
    • SV/CNV

    Red CFHR5 in Complement Deficiencies


    Level 2: Immunological disorders
    Version 0.73

    Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • review Unknown
    Sources
    • Expert Review Red
    • Melbourne Genomics Health Alliance Immunology Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Nephropathy due to CFHR5 deficiency, MIM# 614809

    Red CFHR5 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • BabySeq Category C gene
    Phenotypes
    • Haemolytic uraemic syndrome

    Red CFHR5 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.113

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • BabySeq Category C gene
    • Expert Review Red
    Phenotypes
    • Haemolytic uraemic syndrome