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Prepair 1000+

Gene: C7

Red List (low evidence)

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Susceptibility to infection, not suitable for reproductive carrier screening. R/V ZS/AY/SL/AA/JM/CL.
Created: 11 Aug 2022, 6:49 a.m. | Last Modified: 11 Aug 2022, 6:49 a.m.
Panel Version: 0.99

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
C7 deficiency (MIM#610102)

Crystle Lee (Victorian Clinical Genetics Services)

I don't know

>5 families reported. Complement component (C7) is associated with increased susceptibility to Neisseria meningitidis infections.
Created: 21 Jul 2022, 2:55 a.m. | Last Modified: 21 Jul 2022, 2:55 a.m.
Panel Version: 0.58

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
C7 deficiency (MIM#610102)

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Mackenzie's Mission
Phenotypes
  • C7 deficiency, 610102 (3)
OMIM
217070
Clinvar variants
Variants in C7
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Aug 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: c7 has been classified as Red List (Low Evidence).

11 Aug 2022, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: C7 were set to

11 Aug 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: c7 has been classified as Red List (Low Evidence).

11 Aug 2022, Gel status: 3

Removed Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag for review was removed from gene: C7.

21 Jul 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag for review tag was added to gene: C7.

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: C7 was added gene: C7 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: C7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: C7 were set to C7 deficiency, 610102 (3)