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Newborns additional phenotypes panel 1

Gene: C3

Amber List (moderate evidence)
C3 (complement C3)
EnsemblGeneIds (GRCh38): ENSG00000125730
EnsemblGeneIds (GRCh37): ENSG00000125730
OMIM: 120700, Gene2Phenotype
C3 is in 7 panels

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is gain-of-function (GOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.29
Created: 1 Jun 2023, 2:40 p.m.
Last Modified: 1 Jun 2023, 2:40 p.m.
Panel version: 0.29

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
Phenotypes
  • Hemolytic uremic syndrome, atypical, susceptibility to, 5
OMIM
120700
Clinvar variants
Variants in C3
Penetrance
None
Mode of Pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Panels with this gene

History Filter Activity

14 Sep 2023, Gel status: 2

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Hemolytic uremic syndrome, atypical, susceptibility to, 5 for gene: C3

7 Jul 2023, Gel status: 2

Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

Mode of inheritance for gene: C3 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

5 Jul 2023, Gel status: 2

Added New Source, Set mode of inheritance, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to C3. Mode of inheritance for gene C3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Hemolytic uremic syndrome, atypical, susceptibility to, 5 for gene: C3 Rating Changed from Red List (low evidence) to Amber List (moderate evidence)

31 May 2023, Gel status: 1

Removed Tag

Mafalda Gomes (Genomics England Curator)

Tag GOF was removed from gene: C3.

31 May 2023, Gel status: 1

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Phenotypes for gene: C3 were changed from Hemolytic uremic syndrome, atypical, susceptibility to, 5; Susceptibility to atypical hemolytic uremic syndrome- 5 to Hemolytic uremic syndrome, atypical, susceptibility to, 5

31 May 2023, Gel status: 1

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Red was added to C3. Added phenotypes Hemolytic uremic syndrome, atypical, susceptibility to, 5 for gene: C3 Rating Changed from No List (delete) to Red List (low evidence)

5 May 2023, Gel status: 0

Added New Source, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Removed was added to C3. Rating Changed from Red List (low evidence) to No List (delete)

9 Mar 2023, Gel status: 1

Added Tag

Mafalda Gomes (Genomics England Curator)

Tag GOF tag was added to gene: C3.

9 Mar 2023, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes, Set mode of pathogenicity

Mafalda Gomes (Genomics England Curator)

gene: C3 was added gene: C3 was added to Newborns additional phenotypes panel. Sources: Expert Review Red Mode of inheritance for gene: C3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: C3 were set to Susceptibility to atypical hemolytic uremic syndrome- 5 Mode of pathogenicity for gene: C3 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments