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Complement Deficiencies

Gene: C5

Green List (high evidence)
C5 (complement C5)
EnsemblGeneIds (GRCh38): ENSG00000106804
EnsemblGeneIds (GRCh37): ENSG00000106804
OMIM: 120900, Gene2Phenotype
C5 is in 6 panels

2 reviews

Crystle Lee (Victorian Clinical Genetics Services)

I don't know

>5 families reported with C5 deficiency which is associated with recurrent infectious episodes, generally caused by Gram-negative micro-organisms
Created: 21 Jul 2022, 2:38 a.m. | Last Modified: 21 Jul 2022, 2:38 a.m.
Panel Version: 0.72

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
C5 deficiency (MIM#609536)

Publications

Created: 21 Jul 2022, 2:38 a.m.
Last Modified: 21 Jul 2022, 2:38 a.m.
Panel version: 0.72

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

>5 families
Created: 21 Mar 2022, 12:24 a.m. | Last Modified: 21 Mar 2022, 12:24 a.m.
Panel Version: 0.49

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
C5 deficiency MIM#609536

Publications

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

Created: 21 Mar 2022, 12:24 a.m.
Last Modified: 21 Mar 2022, 12:24 a.m.
Panel version: 0.49

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • C5 deficiency MIM#609536
OMIM
120900
Clinvar variants
Variants in C5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Mar 2022, Gel status: 3

Set Phenotypes

Ain Roesley (Victorian Clinical Genetics Services)

Phenotypes for gene: C5 were changed from C5 deficiency MIM#609536 to C5 deficiency MIM#609536

21 Mar 2022, Gel status: 3

Set mode of inheritance

Ain Roesley (Victorian Clinical Genetics Services)

Mode of inheritance for gene: C5 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal

21 Mar 2022, Gel status: 3

Set publications

Ain Roesley (Victorian Clinical Genetics Services)

Publications for gene: C5 were set to 23743184; 15488949; 15778377; 23371790

21 Mar 2022, Gel status: 3

Set publications

Ain Roesley (Victorian Clinical Genetics Services)

Publications for gene: C5 were set to

21 Mar 2022, Gel status: 3

Set Phenotypes

Ain Roesley (Victorian Clinical Genetics Services)

Phenotypes for gene: C5 were changed from to C5 deficiency MIM#609536

21 Mar 2022, Gel status: 3

Set mode of inheritance

Ain Roesley (Victorian Clinical Genetics Services)

Mode of inheritance for gene: C5 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal

21 Mar 2022, Gel status: 3

Set mode of pathogenicity

Ain Roesley (Victorian Clinical Genetics Services)

Mode of pathogenicity for gene: C5 was changed from to None

21 Mar 2022, Gel status: 3

Set mode of inheritance

Ain Roesley (Victorian Clinical Genetics Services)

Mode of inheritance for gene: C5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

21 Mar 2022, Gel status: 3

Entity classified by Genomics England curator

Ain Roesley (Victorian Clinical Genetics Services)

Gene: c5 has been classified as Green List (High Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: C5 was added gene: C5 was added to Complement deficiencies_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: C5 was set to Unknown