Bleeding and Platelet Disorders

Gene: C3

Green List (high evidence)

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Thrombotic microangiopathy is part of the clinical presentation. Note this is a susceptibility locus.
Sources: Expert Review
Created: 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