Atypical Haemolytic Uraemic Syndrome_MPGN
Gene: CFHR1

CFHR1 (complement factor H related 1)
EnsemblGeneIds (GRCh38): ENSG00000244414
EnsemblGeneIds (GRCh37): ENSG00000244414
OMIM: 134371, Gene2Phenotype
CFHR1 is in 6 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Predominantly CNVs. May not be detectable by all testing modalities.
Created: 11 Feb 2021, 9:47 a.m. | Last Modified: 11 Feb 2021, 9:47 a.m.

Panel Version: 0.32

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Created: 11 Feb 2021, 9:47 a.m.
Last Modified: 11 Feb 2021, 9:47 a.m.
Panel version: 0.32

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. A single patient was homozygous for the CFHR1 deletion, but was only heterozygous for the CFHR3 deletion.

Reports of SNVs are minimal in pubmed and OMIM/Decipher/ClinVar
Created: 11 Feb 2021, 1:32 a.m. | Last Modified: 11 Feb 2021, 1:32 a.m.

Panel Version: 0.32

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, 1:32 a.m.
Last Modified: 11 Feb 2021, 1:32 a.m.
Panel version: 0.32

Details

Mode of Inheritance

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

OMIM

134371

Clinvar variants

Variants in CFHR1

Penetrance

None

Publications

32424742

Panels with this gene