Atypical Haemolytic Uraemic Syndrome_MPGN
Gene: C3

C3 (complement C3)
EnsemblGeneIds (GRCh38): ENSG00000125730
EnsemblGeneIds (GRCh37): ENSG00000125730
OMIM: 120700, Gene2Phenotype
C3 is in 9 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Multiple individuals reported with mono-allelic variants and aHUS. At least one report of biallelic variants.
Created: 15 Oct 2022, 7:03 a.m. | Last Modified: 15 Oct 2022, 7:03 a.m.

Panel Version: 0.40

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
{Hemolytic uremic syndrome, atypical, susceptibility to, 5}, MIM# 612925

Publications

Created: 15 Oct 2022, 7:03 a.m.
Last Modified: 15 Oct 2022, 7:03 a.m.
Panel version: 0.40

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

>3 families
Created: 20 Mar 2022, 10:56 p.m. | Last Modified: 20 Mar 2022, 10:56 p.m.

Panel Version: 0.11645

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
C3 deficiency MIM#613779

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 20 Mar 2022, 10:56 p.m.
Last Modified: 20 Mar 2022, 10:56 p.m.
Panel version: Imported from Mendeliome panel version 0.11645

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

{Hemolytic uremic syndrome, atypical, susceptibility to, 5}, MIM# 612925

OMIM

120700

Clinvar variants

Variants in C3

Penetrance

None

Publications

Panels with this gene