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Complement Deficiencies

Gene: C7

Green List (high evidence)
C7 (complement C7)
EnsemblGeneIds (GRCh38): ENSG00000112936
EnsemblGeneIds (GRCh37): ENSG00000112936
OMIM: 217070, Gene2Phenotype
C7 is in 6 panels

1 review

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

established association with >5 families
Created: 21 Mar 2022, 1:39 a.m. | Last Modified: 21 Mar 2022, 1:39 a.m.
Panel Version: 0.54

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
C7 deficiency MIM#610102

Publications

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

Created: 21 Mar 2022, 1:39 a.m.
Last Modified: 21 Mar 2022, 1:39 a.m.
Panel version: 0.54

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • C7 deficiency MIM#610102
OMIM
217070
Clinvar variants
Variants in C7
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Mar 2022, Gel status: 3

Entity classified by Genomics England curator

Ain Roesley (Victorian Clinical Genetics Services)

Gene: c7 has been classified as Green List (High Evidence).

21 Mar 2022, Gel status: 3

Set Phenotypes

Ain Roesley (Victorian Clinical Genetics Services)

Phenotypes for gene: C7 were changed from to C7 deficiency MIM#610102

21 Mar 2022, Gel status: 3

Set publications

Ain Roesley (Victorian Clinical Genetics Services)

Publications for gene: C7 were set to 22206826; 20591074; 17407100; 16771861; 16552475

21 Mar 2022, Gel status: 3

Set publications

Ain Roesley (Victorian Clinical Genetics Services)

Publications for gene: C7 were set to

21 Mar 2022, Gel status: 3

Set mode of inheritance

Ain Roesley (Victorian Clinical Genetics Services)

Mode of inheritance for gene: C7 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: C7 was added gene: C7 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: C7 was set to Unknown