CFHR3

complement factor H related 3
OMIM: 605336, ClinGen, DECIPHER

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green CFHR3 in Mendeliome


Version 2.0

2 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • {Hemolytic uremic syndrome, atypical, susceptibility to} MIM#235400

Green CFHR3 in Atypical Haemolytic Uraemic Syndrome_MPGN


Level 2: Renal and urinary tract disorders
Version 1.0

2 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • {Hemolytic uremic syndrome, atypical, susceptibility to} MIM#235400
Tags
  • SV/CNV

Green CFHR3 in Complement Deficiencies


Level 2: Immunological disorders
Version 2.0

3 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • {Hemolytic uremic syndrome, atypical, susceptibility to}, MIM# 235400

Red CFHR3 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Genetic Health Queensland
Phenotypes
  • Hemolytic uremic syndrome, atypical, susceptibility to, MIM#235400

Red CFHR3 in Additional findings_Paediatric


Level 2: Screening
Version 1.0

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

Red CFHR3 in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 2.0

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