1. Panels
  2. Complement Deficiencies

Complement Deficiencies (Version 0.74)

Level 2: Immunological disorders

Relevant disorders: Abnormality of complement system, HP:0005339
Panel types: Melbourne Genomics, Victorian Clinical Genetics Services, Rare Disease
Description
This panel was originally developed for the Melbourne Genomics Immunology Flagship by Dr Vanessa Bryant (Walter and Eliza Hall Institute) and Dr Charlotte Slade (Royal Melbourne Hospital). It is currently maintained by VCGS.

Updated with the 2019 International Union of Immunological Societies Committee classification (PMID: 32048120).
Panel Activity

6 reviewers

  • Samantha Ayres (Victorian Clinical Genetics Services)

  • Ain Roesley (Victorian Clinical Genetics Services)

  • Crystle Lee (Victorian Clinical Genetics Services)

  • Elena Savva (Victorian Clinical Genetics Services)

  • Bryony Thompson (Royal Melbourne Hospital)

  • Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

34 Entities

34 reviewed, 20 green

List Entity Reviews Mode of inheritance Details
34 Entitiess
Green List (high evidence)
C1QA
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • C1q deficiency, MIM# 613652
Tags
Green List (high evidence)
C1QB
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • C1q deficiency, MIM# 613652
Tags
Green List (high evidence)
C1QC
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • C1q deficiency MIM#613652
Tags
Green List (high evidence)
C1R
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
C1S
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • C1s deficiency MIM#613783
Tags
Green List (high evidence)
C2
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
C3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • C3 deficiency MIM#613779
Tags
Green List (high evidence)
C5
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • C5 deficiency MIM#609536
Tags
Green List (high evidence)
C6
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • C6 deficiency MIM#612446
Tags
  • treatable
Green List (high evidence)
C7
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • C7 deficiency MIM#610102
Tags
Green List (high evidence)
C8B
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • C8 deficiency, type II MIM#613789
Tags
Green List (high evidence)
C9
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • C9 deficiency MIM#613825
Tags
Green List (high evidence)
CD46
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
CD55
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy, MIM# 226300
Tags
Green List (high evidence)
CD59
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
CFD
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
CFH
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
CFI
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
CFP
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
SERPING1
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Amber List (moderate evidence)
C4A
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • C4a deficiency MIM#614380
  • susceptibility systemic lupus erythematosus
Tags
  • for review
  • SV/CNV
Amber List (moderate evidence)
C4B
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • susceptibility to autoimmune disease
  • C4B deficiency MIM#614379
Tags
  • SV/CNV
Amber List (moderate evidence)
C8A
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • C8 deficiency, type I MIM#613790
Tags
Amber List (moderate evidence)
CFB
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Complement factor B deficiency, MIM# 615561
Tags
Amber List (moderate evidence)
FCN3
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Immunodeficiency due to ficolin 3 deficiency, MIM# 613860
Tags
Red List (low evidence)
C8G
1 review
1 red 		Unknown
Sources
  • Expert Review Red
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Red List (low evidence)
CFHR1
2 reviews
1 red 		Unknown
Sources
  • Expert Review Red
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Red List (low evidence)
CFHR2
1 review
1 red 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • C3 glomerulopathy
  • C3G
  • Immune complex MPGN
  • IC-MPGN
Tags
  • SV/CNV
Red List (low evidence)
CFHR3
2 reviews
1 red 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • {Hemolytic uremic syndrome, atypical, susceptibility to}, MIM# 235400
Tags
Red List (low evidence)
CFHR4
1 review
1 red 		Unknown
Sources
  • Expert Review Red
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Red List (low evidence)
CFHR5
2 reviews
1 green 1 red 		Unknown
Sources
  • Expert Review Green
  • Expert Review Red
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Nephropathy due to CFHR5 deficiency, MIM# 614809
Tags
Red List (low evidence)
ITGAM
1 review
1 red 		Unknown
Sources
  • Expert Review Red
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Red List (low evidence)
MASP2
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • MASP2 deficiency, MIM# 613791
Tags
Red List (low evidence)
THBD
2 reviews
1 green 1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review Red
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • {Hemolytic uremic syndrome, atypical, susceptibility to, 6}, MIM# 612926
Tags

Downloads

Download lists

  • Whole panel
  • Green list (high evidence)
  • Green and Amber Genes
  • Amber Genes
  • Red list (low evidence)

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