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Prepair 1000+

Gene: C5

Green List (high evidence)

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

1 review

Crystle Lee (Victorian Clinical Genetics Services)

Green List (high evidence)

Childhood onset, recurrent infectious episodes, generally caused by Gram-negative microorganisms
Created: 1 Oct 2024, 7:01 a.m. | Last Modified: 1 Oct 2024, 7:01 a.m.
Panel Version: 1.355

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
C5 deficiency (MIM#609536)

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • C5 deficiency, 609536 (3)
OMIM
120900
Clinvar variants
Variants in C5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Oct 2024, Gel status: 3

Entity classified by Genomics England curator

Lilian Downie (Victorian Clinical Genetics Services)

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

5 Oct 2024, Gel status: 3

Set publications

Lilian Downie (Victorian Clinical Genetics Services)

Publications for gene: C5 were set to

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: C5 was added gene: C5 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: C5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: C5 were set to C5 deficiency, 609536 (3)