COVID-19 researchGene: 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/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.
Source Expert Review Green was added to C8G. Added phenotypes Complement Deficiencies; Complement factor 8 defect; Complement component 8 deficiency; Disseminated neisserial infections for gene: C8G Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: C8G was added gene: C8G was added to Viral susceptibility. Sources: ESID Registry 20171117,Victorian Clinical Genetics Services,GRID V2.0,IUIS Classification December 2019,Expert Review Red,IUIS Classification February 2018 Mode of inheritance for gene: C8G was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: C8G were set to 32086639; 32048120 Phenotypes for gene: C8G were set to Complement Deficiencies; Complement factor 8 defect; Complement component 8 deficiency; Disseminated neisserial infections