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Mendeliome

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

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

Established gene-disease association
Created: 15 Mar 2022, 3:54 a.m. | Last Modified: 15 Mar 2022, 3:54 a.m.
Panel Version: 0.11388

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
C2 deficiency MIM#217000

Publications

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

Details

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

History Filter Activity

15 Mar 2022, Gel status: 3

Set Phenotypes

Ain Roesley (Victorian Clinical Genetics Services)

Phenotypes for gene: C2 were changed from C2 deficiency MIM#217000 to C2 deficiency MIM#217000

15 Mar 2022, Gel status: 3

Set publications

Ain Roesley (Victorian Clinical Genetics Services)

Publications for gene: C2 were set to 16026838; 8621452; 35272074; 32385807

15 Mar 2022, Gel status: 3

Set Phenotypes

Ain Roesley (Victorian Clinical Genetics Services)

Phenotypes for gene: C2 were changed from to C2 deficiency MIM#217000

15 Mar 2022, Gel status: 3

Set publications

Ain Roesley (Victorian Clinical Genetics Services)

Publications for gene: C2 were set to

15 Mar 2022, Gel status: 3

Entity classified by Genomics England curator

Ain Roesley (Victorian Clinical Genetics Services)

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

15 Mar 2022, Gel status: 3

Set mode of inheritance

Ain Roesley (Victorian Clinical Genetics Services)

Mode of inheritance for gene: C2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: C2 was added gene: C2 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: C2 was set to Unknown