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  3. CFHR3
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Atypical Haemolytic Uraemic Syndrome_MPGN

Gene: CFHR3

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

CNVs are predominant mechanism, may not be tractable by some testing modalities.
Created: 11 Feb 2021, 9:51 a.m. | Last Modified: 11 Feb 2021, 9:51 a.m.
Panel Version: 0.35

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

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

Created: 11 Feb 2021, 9:51 a.m.
Last Modified: 11 Feb 2021, 9:51 a.m.
Panel version: 0.35

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, 1:34 a.m. | Last Modified: 11 Feb 2021, 1:34 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

Created: 11 Feb 2021, 1:34 a.m.
Last Modified: 11 Feb 2021, 1:34 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
605336
Clinvar variants
Variants in CFHR3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Feb 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cfhr3 has been classified as Green List (High Evidence).

11 Feb 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CFHR3 were changed from to {Hemolytic uremic syndrome, atypical, susceptibility to} MIM#235400

11 Feb 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CFHR3 were set to

11 Feb 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: CFHR3 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

11 Feb 2021, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag SV/CNV tag was added to gene: CFHR3.

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CFHR3 was added gene: CFHR3 was added to Atypical Haemolytic Uraemic Syndrome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CFHR3 was set to Unknown