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Complement Deficiencies

Gene: C6

Green List (high evidence)
C6 (complement C6)
EnsemblGeneIds (GRCh38): ENSG00000039537
EnsemblGeneIds (GRCh37): ENSG00000039537
OMIM: 217050, Gene2Phenotype
C6 is in 6 panels

1 review

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

> 5 families
Created: 21 Mar 2022, 1:03 a.m. | Last Modified: 21 Mar 2022, 1:03 a.m.
Panel Version: 0.52

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
C6 deficiency MIM#612446

Publications

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

Created: 21 Mar 2022, 1:03 a.m.
Last Modified: 21 Mar 2022, 1:03 a.m.
Panel version: 0.52

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • C6 deficiency MIM#612446
Tags
treatable
OMIM
217050
Clinvar variants
Variants in C6
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Oct 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag treatable tag was added to gene: C6.

21 Mar 2022, Gel status: 3

Set publications

Ain Roesley (Victorian Clinical Genetics Services)

Publications for gene: C6 were set to 23537992; 24378253; 17257682; 22668955; 32670577

21 Mar 2022, Gel status: 3

Set mode of inheritance

Ain Roesley (Victorian Clinical Genetics Services)

Mode of inheritance for gene: C6 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: C6 were set to 23537992; 24378253; 17257682; 22668955; 32670577

21 Mar 2022, Gel status: 3

Set Phenotypes

Ain Roesley (Victorian Clinical Genetics Services)

Phenotypes for gene: C6 were changed from to C6 deficiency MIM#612446

21 Mar 2022, Gel status: 3

Set publications

Ain Roesley (Victorian Clinical Genetics Services)

Publications for gene: C6 were set to

21 Mar 2022, Gel status: 3

Set mode of inheritance

Ain Roesley (Victorian Clinical Genetics Services)

Mode of inheritance for gene: C6 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: c6 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: C6 was added gene: C6 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: C6 was set to Unknown