Primary immunodeficiency or monogenic inflammatory bowel disease

Gene: C8G

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.

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.