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Newborns main panel

Gene: C3

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

2 reviews

Arina Puzriakova (Genomics England Curator)

Special Consideration: Do not report GOF variants.
Created: 25 Sep 2024, 3:10 p.m. | Last Modified: 25 Sep 2024, 3:10 p.m.
Panel Version: 0.469
Created: 25 Sep 2024, 3:10 p.m.
Last Modified: 25 Sep 2024, 3:10 p.m.
Panel version: 0.469

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
PMID: 15781264 - 1 case. PMID: 4117597 - 1 case PMID: 12462331 - 1 case PMID: 14639503 - 1 case PMID: 18201916 - 1 case. PMID: 36299691 - 1 case and note that about 40 cases reported
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

History Filter Activity

25 Sep 2024, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag special_consideration tag was added to gene: C3.

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Phenotypes for gene: C3 were changed from C3 deficiency; C3 deficiency to C3 deficiency

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes C3 deficiency for gene: C3

7 Jul 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Phenotypes for gene: C3 were changed from C3 deficiency; C3 deficiency to C3 deficiency

7 Jul 2023, Gel status: 3

Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

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

5 Jul 2023, Gel status: 3

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

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to C3. Mode of inheritance for gene C3 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes C3 deficiency for gene: C3 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 May 2023, Gel status: 2

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Phenotypes for gene: C3 were changed from C3 deficiency; C3deficiency to C3 deficiency

31 May 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to C3. Added phenotypes C3deficiency for gene: C3 Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

15 May 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Phenotypes for gene: C3 were changed from C3 deficiency; C3deficiency to C3 deficiency

15 May 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes C3deficiency for gene: C3

9 May 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Phenotypes for gene: C3 were changed from C3 deficiency; C3deficiency to C3 deficiency

9 May 2023, Gel status: 3

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

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green 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 C3deficiency for gene: C3 Rating Changed from No List (delete) to Green List (high 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

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

Mafalda Gomes (Genomics England Curator)

gene: C3 was added gene: C3 was added to Newborns main 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 C3 deficiency