Genomics Precision Diagnostic > Immunology Precision Panel > Inherited Disorders of the Complement System Precision Panel

Inherited Disorders of the Complement System Precision Panel – 75 genes

Inherited Disorders of the Complement System are rare disorders that predispose to bacterial infections and/or systemic lupus erythematosus (SLE). The complement system is a group of circulating proteins that participate in the innate immunity, bind to pathogens and destroys them.

Overview

Indication

Clinical Utility

Genes & Diseases

Methodology

References

Overview

Inherited Disorders of the Complement System are rare disorders that predispose to bacterial infections and/or systemic lupus erythematosus (SLE). The complement system is a group of circulating proteins that participate in the innate immunity, bind to pathogens and destroys them. In addition to playing an important role in host defense against infection, the complement system is a mediator in both the pathogenesis and prevention of immune complex disease such as SLE. Inherited disorders of the complement system are associated with predictable defects in complement-dependent function, as the affected individual loses not only the activity of the deficient protein, but also the functions of the proteins in the cascade. Additionally, it can also be due to heterozygous deficiency. These are generally classified in two categories: 1) integral component defects and 2) regulatory component defects.
The Igenomix Inherited Disorders of the Complement System Precision Panel can be used for an accurate and directed diagnosis as well as differential diagnosis of recurrent infections ultimately leading to a better management and prognosis of the disease. It provides a comprehensive analysis of the genes involved in this disease using next-generation sequencing (NGS) to fully understand the spectrum of relevant genes involved.

Indication

The Igenomix Inherited Disorders of the Complement System Precision Panel is used for patients with a clinical diagnosis or suspicion with or without the following symptoms:
- Sinopulmonary bacterial infections
- Bacteremia
- Meningitis
- Autoimmune disorders such as SLE

Clinical Utility

The clinical utility of this panel is:

The genetic and molecular confirmation for an accurate clinical diagnosis of a symptomatic patient.
Early initiation of antimicrobial prophylaxis with antibacterial, antifungals, rapid recognition and treatment of infections as well as aggressive management of infectious complications. For those patients presenting with autoimmune disease, treatment of these patients focuses on immunosuppressive therapy.
Risk assessment and genetic counselling of asymptomatic family members according to the mode of inheritance.
Improvement of delineation of genotype-phenotype correlation.

Genes & Diseases

See all genes and diseases

GENE	OMIM DISEASES	INHERITANCE*	% GENE COVERAGE (20X)	HGMD**
*C1QA*	C1q Deficiency	AR	100	8 of 8
*C1QB*	C1q Deficiency	AR	99.91	8 of 8
*C1QBP*	Oxidative Phosphorylation Deficiency	AR	99.89	6 of 6
*C1QC*	C1q Deficiency	AR	100	11 of 11
*C1S*	Complement Component C1s Deficiency, Ehlers-Danlos Syndrome	AD	100	12 of 12
C2	Complement Component 2 Deficiency	AR	99.97	9 of 9
C3	Complement Component 3 Deficiency, Hemolytic Uremic Syndrome	AD,AR	100	123 of 124
*C4A*	Complement Component 4a Deficiency, Behçet Disease	AR	19.11	0 of 6
*C4B*	Complement Component 4b Deficiency	–	22.98	3 of 7
C5	C5 Deficiency	AR	99.98	19 of 19
C6	C6 Deficiency	AR	100	15 of 15
C7	C7 Deficiency	AR	99.63	28 of 30
*C8A*	Complement Component 8 Deficiency	AR	100	8 of 8
*C8B*	Complement Component 8 Deficiency	AR	100	11 of 11
C9	Complement Component 9 Deficiency	–	100	11 of 11
*CCDC103*	Ciliary Dyskinesia	AR	99.92	6 of 6
*CCDC39*	Ciliary Dyskinesia	AR	99.56	48 of 52
*CCDC40*	Ciliary Dyskinesia	AR	98	50 of 50
*CCDC65*	Ciliary Dyskinesia	AR	99.98	3 of 3
*CCNO*	Ciliary Dyskinesia	AR	99.94	12 of 12
*CD46*	Hemolytic Uremic Syndrome, Hellp Syndrome	AD,AR	100	83 of 84
*CD55*	Enteropathy	AR	98.21	5 of 6
*CD59*	Hemolytic Anemia Immune- Mediated Polyneuropathy	AR	99.99	8 of 8
*CFAP300*	Ciliary Dyskinesia	AR	–	–
*CFB*	Complement Factor B Deficiency, Hemolytic Uremic Syndrome	AD,AR	100	26 of 26
*CFD*	Complement Factor D Deficiency	AR	99.88	3 of 3
*CFH*	Basal Laminar Drusen, Complement Factor H Deficiency, Hemolytic Uremic Syndrome, Macular Degeneration, Hellp Syndrome	AD,AR,MU,P	99.94	340 of 342
*CFHR1*	Hemolytic Uremic Syndrome, Macular Degeneration	AD,AR	88.29	0 of 9
*CFHR3*	Hemolytic Uremic Syndrome, Macular Degeneration	AD,AR	89.89	0 of 7
*CFI*	Complement Factor I Deficiency, Hemolytic Uremic Syndrome, Macular Degeneration, Hellp Syndrome	AD,AR	99.93	156 of 158
*CFP*	Properdin Deficiency	X,XR,G	100	–
*COLEC11*	Carnevale Syndrome, 3mc Syndrome	AR	100	11 of 11
*CR2*	Immunodeficiency	AD,AR	99.92	19 of 19
*DGKE*	Nephrotic Syndrome	AR	99.67	41 of 42
*DNAAF1*	Ciliary Dyskinesia	AR	99.55	36 of 37
*DNAAF2*	Ciliary Dyskinesia	AR	97.45	7 of 8
*DNAAF3*	Ciliary Dyskinesia	AR	98.95	13 of 14
*DNAAF4*	Ciliary Dyskinesia, Dyslexia	AD,AR	99.27	–
*DNAAF5*	Ciliary Dyskinesia	AR	89.27	–
*DNAH11*	Ciliary Dyskinesia	AR	99.27	159 of 169
*DNAH5*	Ciliary Dyskinesia	AR	100	277 of 278
*DNAH9*	Ciliary Dyskinesia	AR	98.86	19 of 19
*DNAI1*	Kartagener Syndrome, Ciliary Dyskinesia	AR	96.91	43 of 43
*DNAI2*	Ciliary Dyskinesia, Situs Inversus	AR	98.89	8 of 8
*DNAL1*	Ciliary Dyskinesia	AR	99.43	5 of 5
*DNASE1L3*	Lupus Erythematosus, Hypocomplementemic Urticarial Vasculitis	AR	100	4 of 4
*DRC1*	Ciliary Dyskinesia	AR	100	9 of 9
*FCN3*	Immunodeficiency	AR	99.98	1 of 1
*GAS2L2*	Ciliary Dyskinesia	AR	89	4 of 5
*HYDIN*	Ciliary Dyskinesia	AR	81.7	45 of 63
*IRAK1*	Lupus Erythematosus	–	96.2	–
*LMNA*	Cardiomyopathy, Charcot-Marie- Tooth Disease, Emery-Dreifuss Muscular Dystrophy, Heart-Hand Syndrome, Hutchinson- Gilford Progeria Syndrome, Malouf Syndrome, Mandibuloacral Dysplasia, Restrictive Dermopathy, Werner Syndrome, Hypergonadotropic Hypogonadism, Lipodystrophy	AD,AR	100	619 of 620
*LMNB2*	Barraquer-Simons Syndrome, Epilepsy, Lipodystrophy	AD,AR	95.03	5 of 5
*LRRC6*	Ciliary Dyskinesia	AR	99.88	21 of 21
*MASP1*	3mc Syndrome	AR	100	29 of 30
*MASP2*	Masp2 Deficiency	AR	99.68	7 of 7
*MAT2A*	Thoracic Aortic Aneurysm, Aortic Dissection	–	100	3 of 3
*MCIDAS*	Ciliary Dyskinesia	AR	99.92	4 of 4
*NME8*	Ciliary Dyskinesia	AR	99.99	9 of 9
*ODAD1*	Ciliary Dyskinesia	AR	99.68	10 of 10
*ODAD2*	Ciliary Dyskinesia	AR	97.3	26 of 28
*OFD1*	Joubert Syndrome, Orofaciodigital Syndrome, Retinitis Pigmentosa, Simpson-Golabi- Behmel Syndrome, Ciliary Dyskinesia	X,XR,XD,G	98.09	–
*PACS1*	Mental Retardation, Intellectual Disability, Craniofacial Dysmorphism, Cryptorchidism	AD	97.98	3 of 3
*PIGA*	Hypotonia, Seizures, Paroxysmal Nocturnal Hemoglobinuria, West Syndrome	X,XR,G	97.98	–
*RSPH1*	Ciliary Dyskinesia	AR	100	10 of 10
*RSPH4A*	Ciliary Dyskinesia	AR	99.98	27 of 27
*RSPH9*	Ciliary Dyskinesia	AR	100	13 of 13
*SERPING1*	Angioedema, Complement Component 4 Deficiency	AD,AR	99.97	518 of 524
*SLC7A7*	Lysinuric Protein Intolerance	AR	100	61 of 61
*SPAG1*	Ciliary Dyskinesia	AR	94.8	11 of 12
*SPP1*	Lupus Erythematosus	–	99.77	2 of 2
*STAT4*	Behçet Disease, Oligoarticular Idiopathic Arthritis, Lupus Erythematosus	–	99.98	4 of 4
*STK36*	Ciliary Dyskinesia	–	100	5 of 5
*THBD*	Hemolytic Uremic Syndrome, Thrombophilia	AD	99.91	29 of 30
*ZMYND10*	Ciliary Dyskinesia	AR	99.98	16 of 16

* Inheritance: AD: Autosomal Dominant; AR: Autosomal Recessive; X: X linked; XLR: X linked Recessive; Mi: Mitochondrial; Mu: Multifactorial; G: Gonosomal Inheritance; D: Digenic Inheritance

** HGMD: Number of clinically relevant mutations according to HGMD

Methodology

References

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