Complement Deficiencies
Gene: CFHR3

CFHR3 (complement factor H related 3)
EnsemblGeneIds (GRCh38): ENSG00000116785
EnsemblGeneIds (GRCh37): ENSG00000116785
OMIM: 605336, Gene2Phenotype
CFHR3 is in 6 panels

2 reviews

Elena Savva (Victorian Clinical Genetics Services)

I don't know

PMID: 32424742 - Czech cohort of chlidren with aHUS, many had a whole gene deletion of CFHR1/CFHR3. Patients were either hom, or het with a 2nd mutation in another gene.

Reports of SNVs are minimal in pubmed and OMIM/Decipher/ClinVar
Created: 11 Feb 2021, 1:36 a.m. | Last Modified: 11 Feb 2021, 1:36 a.m.

Panel Version: 0.6314

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
{Hemolytic uremic syndrome, atypical, susceptibility to} MIM#235400; {Macular degeneration, age-related, reduced risk of} MIM#603075

Publications

PMID:32424742

Created: 11 Feb 2021, 1:36 a.m.
Last Modified: 11 Feb 2021, 1:36 a.m.
Panel version: Imported from Mendeliome panel version 0.6314

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Association is with aHUS, gene is included in aHUS panel.
Created: 10 Apr 2020, 3:27 a.m. | Last Modified: 10 Apr 2020, 3:27 a.m.

Panel Version: 0.17

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
{Hemolytic uremic syndrome, atypical, susceptibility to}, MIM# 235400

Created: 10 Apr 2020, 3:27 a.m.
Last Modified: 10 Apr 2020, 3:27 a.m.
Panel version: 0.17

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Red
Melbourne Genomics Health Alliance Immunology Flagship
Victorian Clinical Genetics Services

Phenotypes

{Hemolytic uremic syndrome, atypical, susceptibility to}, MIM# 235400

OMIM

605336

Clinvar variants

Variants in CFHR3

Penetrance

None

Panels with this gene