Bleeding and Platelet Disorders
Gene: C3
C3 (complement C3)
EnsemblGeneIds (GRCh38): ENSG00000125730
EnsemblGeneIds (GRCh37): ENSG00000125730
OMIM: 120700, Gene2Phenotype
C3 is in 9 panels
EnsemblGeneIds (GRCh38): ENSG00000125730
EnsemblGeneIds (GRCh37): ENSG00000125730
OMIM: 120700, Gene2Phenotype
C3 is in 9 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Thrombotic microangiopathy is part of the clinical presentation. Note this is a susceptibility locus.
Sources: Expert ReviewCreated: 29 Apr 2024, 6:17 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
{Hemolytic uremic syndrome, atypical, susceptibility to, 5}, MIM# 612925
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert Review
- Phenotypes
-
- {Hemolytic uremic syndrome, atypical, susceptibility to, 5}, MIM# 612925
- OMIM
- 120700
- Clinvar variants
- Variants in C3
- Penetrance
- None
- Panels with this gene
History Filter Activity
29 Apr 2024, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: c3 has been classified as Green List (High Evidence).
29 Apr 2024, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: c3 has been classified as Green List (High Evidence).
29 Apr 2024, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: C3 was added gene: C3 was added to Bleeding and Platelet Disorders. Sources: Expert Review Mode of inheritance for gene: C3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: C3 were set to {Hemolytic uremic syndrome, atypical, susceptibility to, 5}, MIM# 612925 Review for gene: C3 was set to GREEN