Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: C8G
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.
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/ACreated: 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 GRIDCreated: 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 deficiencyCreated: 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: ENST00000224181Created: 17 Apr 2018, 12:12 p.m.
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
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.
Phenotypes for gene C8G were set to Complement factor 8 defect, Complement component 8 deficiency, Disseminated neisserial infections, Complement Deficiencies
IUIS Classification February 2018 was added to C8G. Panel: Primary immunodeficiency disorders
Victorian Clinical Genetics Services was added to C8G. Panel: Primary immunodeficiency disorders
Gene: c8g has been classified as Red List (Low Evidence).
Gene: c8g has been classified as Red List (Low Evidence).
Expert Review Amber was added to C8G. Panel: Primary immunodeficiency disorders
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
Phenotypes for gene C8G were set to Complement factor 8 defect
C8G was added to Primary immunodeficiency disorders panel. Sources: GRID V2.0
C8G was created by Louise Daugherty