Genes in panel
STRs in panel
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Primary immunodeficiency

Gene: C8G

Red List (low evidence)

C8G (complement C8 gamma chain)
EnsemblGeneIds (GRCh38): ENSG00000176919
EnsemblGeneIds (GRCh37): ENSG00000176919
OMIM: 120930, Gene2Phenotype
C8G is in 3 panels

2 reviews

Sophie Hambleton (Newcastle University)

Red List (low evidence)

Deficiency of C8g is associated with mutations in C8A in complement factor 8 deficiency type I (C8AG deficiency) but no evidence of mutations within C8G itself associating with any disease phenotype as far as I can see.
Created: 19 Jun 2018, 7:23 a.m.

Louise Daugherty (Genomics England Curator)

Red List (low evidence)

OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): C8G .PanelApp HGNC gene symbol check: C8G . IUIS Disease: C8g deficiency . IUIS Inheritance: AR .T cells: N/A, .B cells: N/A, .IUIS Other affected cells: N/A. IUIS Associated features: Disseminated neisserial infections. IUIS Major category: Complement Deficiencies. IUIS Subcategory: N/A
Created: 2 Jul 2018, 10:35 a.m.
Comment on list classification: External expert review notes Red status due to no evident link to immunodeficiency, so demoted to Red on this panel until further evidence from GRID
Created: 20 Jun 2018, 4:14 p.m.
This gene was absent from the original PanelApp PID panel dataset (review April 2018). However it was listed in external expert immunodeficiency diagnostic gene list(s) GOSH or GRID. In this combined PID panel, this gene has been rated as AMBER and needs further curational review to assess pertinence prior to v1.
Created: 20 Apr 2018, 12:25 p.m.
Original metadata downloaded from ESID Registry. ESID_Gene_original: C8G, PanelApp HGNC gene symbol check: C8G, ESID classification: Main_category/ Sub_category/ PID_Diagnosis Complement deficiencies / Complement deficiency / Complement component 8 deficiency
Created: 17 Apr 2018, 12:29 p.m.
Original metadata supplied by GRID. GRID Gene Symbol HGNC PanelApp check: C8G, GRID_Gene_Symbol: C8G, GRID_Transcript_ENS_Community submitted: ENST00000224181, GRID_Transcript_RefSeq: NM_000606.2, GRID_Transcript_ENS_used_on_Production: ENST00000224181
Created: 17 Apr 2018, 12:12 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • IUIS Classification December 2019
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • Expert Review Red
  • ESID Registry 20171117
  • GRID V2.0
Phenotypes
  • Complement Deficiencies
  • Disseminated neisserial infections
  • Complement component 8 deficiency
  • Complement factor 8 defect
OMIM
120930
Clinvar variants
Variants in C8G
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Feb 2020, Gel status: 1

Added New Source, Set Phenotypes, Set publications

Louise Daugherty (Genomics England Curator)

Source IUIS Classification December 2019 was added to C8G. Added phenotypes Disseminated neisserial infections for gene: C8G Publications for gene C8G were updated from to 32048120; 32086639

12 Jul 2018, Gel status: 1

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

2018-07-12 Louise Daugherty (Genomics England Curator) promoted panel to v1.0. Reviews were assessed, and panel was revised according to expert reviews and further in-house curation based on PanelApp guidelines. Previous panels (A- or hypo-gammaglobulinaemia, Congenital neutropaenia, Agranulocytosis, Combined B and T cell defect, Inherited complement deficiency and SCID panels) that were merged with this panel, were checked again for any changes/new reviews prior to versioning of this panel, these merged panels are now retired/made internal.

1 Jul 2018, Gel status: 1

Set penetrance

Louise Daugherty (Genomics England Curator)

Phenotypes for gene C8G were set to Complement factor 8 defect, Complement component 8 deficiency, Disseminated neisserial infections, Complement Deficiencies

26 Jun 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

IUIS Classification February 2018 was added to C8G. Panel: Primary immunodeficiency disorders

26 Jun 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Victorian Clinical Genetics Services was added to C8G. Panel: Primary immunodeficiency disorders

20 Jun 2018, Gel status: 1

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: c8g has been classified as Red List (Low Evidence).

20 Jun 2018, Gel status: 1

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: c8g has been classified as Red List (Low Evidence).

20 Apr 2018, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Expert Review Amber was added to C8G. Panel: Primary immunodeficiency disorders

17 Apr 2018, Gel status: 1

Added New Source, Set penetrance

Louise Daugherty (Genomics England Curator)

ESID Registry 20171117 was added to C8G. Panel: Primary immunodeficiency disorders Phenotypes for gene C8G were set to Complement factor 8 defect, Complement component 8 deficiency

17 Apr 2018, Gel status: 1

Set penetrance

Louise Daugherty (Genomics England Curator)

Phenotypes for gene C8G were set to Complement factor 8 defect

17 Apr 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

C8G was added to Primary immunodeficiency disorders panel. Sources: GRID V2.0

17 Apr 2018, Gel status: 1

Created

Louise Daugherty (Genomics England Curator)

C8G was created by Louise Daugherty