PanelApp
  1. Genes and Genomic Entities
  2. CFH

CFH

complement factor H
OMIM: 134370, Gene2Phenotype

11 panels

Panel Reviews Mode of inheritance Details
11 panels

Green CFH in Vasculitis


Level 2: Immunological disorders
Version 0.93

0 reviews Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Red CFH in Haematuria_Alport


Level 2: Renal and urinary tract disorders
Version 1.2

Component of the following Super Panels:

  • Kidneyome_SuperPanel
  • Renal Glomerular Disease_SuperPanel

    		•  2 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Victorian Clinical Genetics Services
    Phenotypes
    • Complement factor H deficiency, MIM#609814

    Green CFH in Mendeliome


    Version 1.3512

    		1 review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Basal laminar drusen MIM#126700
    • Complement factor H deficiency MIM#609814
    • {Hemolytic uremic syndrome, atypical, susceptibility to, 1} MIMI#235400

    Green CFH in Atypical Haemolytic Uraemic Syndrome_MPGN


    Level 2: Renal and urinary tract disorders
    Version 0.54

    Component of the following Super Panels:

  • Kidneyome_SuperPanel

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

    Green CFH in Complement Deficiencies


    Level 2: Immunological disorders
    Version 1.2

    Component of the following Super Panels:

  • Immunological disorders_SuperPanel

    		•  1 review Unknown
    Sources
    • Expert Review Green
    • Melbourne Genomics Health Alliance Immunology Flagship
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Red CFH in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.410

    		1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Genetic Health Queensland
    Phenotypes
    • Complement factor H deficiency, MIM#609814

    Green CFH in Macular Dystrophy/Stargardt Disease


    Level 2: Ophthalmological disorders
    Version 0.56

    Component of the following Super Panels:

  • Retinal Disorders Superpanel

    		•  1 review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Basal laminar drusen, 126700

    Green CFH in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.110

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Complement factor H deficiency, 609814 (3)

    Red CFH in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BabySeq Category C gene
    Phenotypes
    • Haemolytic uraemic syndrome

    Green CFH in Prepair 1000+


    Level 2: Screening
    Version 2.14

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Complement factor H deficiency, 609814 (3)

    Green CFH in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.140

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • BabySeq Category C gene
    Phenotypes
    • Complement factor H deficiency, MIM# 609814
    Tags
    • treatable
    • immunological