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BabyScreen+ newborn screening

Gene: C2

Green List (high evidence)

C2 (complement C2)
EnsemblGeneIds (GRCh38): ENSG00000166278
EnsemblGeneIds (GRCh37): ENSG00000166278
OMIM: 613927, Gene2Phenotype
C2 is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Established gene-disease association.

Can present with severe early infections in infancy/childhood.

Later manifestations include autoimmune phenomena.

Treatment: pneumococcal, meningococcal, haemophilus influenzae vaccines

Non-genetic confirmatory tests: complement levels
Sources: Expert list
Created: 3 Oct 2023, 8:54 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
C2 deficiency, MIM# 217000

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • C2 deficiency, MIM# 217000
Tags
treatable immunological
OMIM
613927
Clinvar variants
Variants in C2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Oct 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: c2 has been classified as Green List (High Evidence).

3 Oct 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: c2 has been classified as Green List (High Evidence).

3 Oct 2023, Gel status: 1

Added Tag, Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag treatable tag was added to gene: C2. Tag immunological tag was added to gene: C2.

3 Oct 2023, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: C2 was added gene: C2 was added to BabyScreen+ newborn screening. Sources: Expert list Mode of inheritance for gene: C2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: C2 were set to 31421540 Phenotypes for gene: C2 were set to C2 deficiency, MIM# 217000 Review for gene: C2 was set to GREEN