Description
Inherited complement deficiency eligibility statement:

Inherited complement deficiency inclusion criteria (33477)
•	Suspected complement deficiency diagnosed by a consultant immunologist/rheumatologist, AND
•	Clinical features suggestive of inherited complement deficiency such as early onset vasculitis and/or susceptibility to bacterial infections particularly Neisserial species, AND
•	Results of C3, C4, CH50, AP50 collected. Severely reduced or absent complement function as measured in an accredited diagnostic laboratory on at least two occasions, AND
•	All cases must be discussed and approved by the PID-MDT at the recruiting GMC

Inherited complement deficiency exclusion criteria (33477)
•	Secondary complement deficiency
•	Established genetic cause in proband or family member

Prior genetic testing guidance (33477)
- Results should have been reviewed for all genetic tests undertaken, including disease-relevant genes in exome sequencing data. The patient is not eligible if they have a molecular diagnosis for their condition. 
- Genetic testing should continue according to routine local practice for this phenotype regardless of recruitment to the project; results of these tests must be submitted via the ‘Genetic investigations’ section of the data capture tool to allow comparison of WGS with current standard testing.  

PLEASE NOTE: The sensitivity of WGS compared to current diagnostic genetic testing has not yet been established. It is therefore important that tests which are clinically indicated under local standard practice continue to be carried out.

Inherited complement deficiency prior genetic testing gene (33477)
Testing of the following genes should be carried out PRIOR TO RECRUITMENT where this is in line with current local practice:

Closing statement (33477)
These requirements will be kept under continual review during the main programme and may be subject to change.

2 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: other
    Workplace: other

  • emma baple (South West GMC)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS clinical service

7 Entities

3 reviewed, 1 green

List Entity Reviews Mode of inheritance Details
7 Entitiess
Green Green List (high evidence)
C1QB
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Immunodeficiency due to an early component of complement deficiency
  • ORPHA169147
  • OMIM 613652
Tags
Red Red List (low evidence)
C2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Complement Component C2 Deficiency
Tags
Red Red List (low evidence)
CFD
0 reviews
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Complement factor D deficiency, 613912
Tags
Red Red List (low evidence)
CFH
0 reviews
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • {Hemolytic uremic syndrome, atypical, susceptibility to, 1}, 235400
  • Complement factor H deficiency, 609814
  • {Macular degeneration, age-related, 4}, 610698
  • Basal laminar drusen, 126700
Tags
Red Red List (low evidence)
CFI
0 reviews
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Complement factor I deficiency, 610984
  • {Hemolytic uremic syndrome, atypical, susceptibility to, 3}, 612923
  • {Macular degeneration, age-related, 13, susceptibility to}, 615439
Tags
Red Red List (low evidence)
MBL2
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Mannose-Binding Protein Deficiency
Tags
No list No list
TCN2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
  • Literature
Phenotypes
  • Transcobalamin II deficiency
  • can have a presentation similar to severe combined immunodeficiency
  • pancytopenia
  • neutropenic colitis
  • Agammaglobulinemia
  • megaloblastic bone marrow
  • thrombocytopenia
  • neutropenia
  • failure to thrive
  • hypotonia, myoclonic like movements, pallor, purpura, anaemia, thrombocytopenia, megaloblastosis, aplastic bone marrow.
Tags

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