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BabyScreen+ newborn screening

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association.

Childhood onset, susceptibility to Gram -ve infections.

Treatment: pneumococcal, meningococcal, haemophilus influenzae vaccines

Non-genetic confirmatory tests: classical pathway and alternative pathway of the complement system functional activity tests
Created: 7 Oct 2022, 5:39 a.m. | Last Modified: 7 Oct 2022, 5:39 a.m.
Panel Version: 0.497

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
C5 deficiency (MIM#609536)

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BeginNGS
Phenotypes
  • C5 deficiency, MIM# 609536
Tags
treatable immunological
OMIM
120900
Clinvar variants
Variants in C5
Penetrance
None
Panels with this gene

History Filter Activity

24 Dec 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag immunological tag was added to gene: C5.

7 Oct 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

7 Oct 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag treatable tag was added to gene: C5.

18 Sep 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 gNBS. Sources: BeginNGS,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, MIM# 609536