Description
Atypical haemolytic uraemic syndrome eligibility statement:

Atypical haemolytic uraemic syndrome inclusion criteria (33528)
•	Renal biopsy showing a thrombotic microangiopathy, OR
•	the classic triad of microangiopathic haemolytic anaemia, thrombocytopenia, renal failure.

Atypical haemolytic uraemic syndrome exclusion criteria (33528)
•	Shiga toxin associated HUS
•	Secondary causes – drugs, infection (HIV, Streptococcus pneumonia), transplantation (bone marrow, liver, lung, cardiac but not de-novo renal),  cobalamin deficiency,  SLE, APL Ab syndrome, scleroderma
•	ADAMTS13 activity <10% or anti-ADAMTS13 autoantibodies

Prior genetic testing guidance (33528)
- 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.

Atypical haemolytic uraemic syndrome prior genetic testing genes (33528)
Testing of the following genes should be carried out PRIOR TO RECRUITMENT where this is in line with current local practice: 
 CFH, CFI, CD46

Closing statement (33528)
These requirements will be kept under continual review during the main programme and may be subject to change.

4 reviewers

  • Daniel Gale (UCL)

    Group: GeCIP domain
    Workplace: Research lab

  • Tim Goodship (Newcastle University)

    Group: Other
    Workplace: Research lab

  • Sarah Leigh (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Louise Daugherty (Genomics England Curator)

    Group: Other
    Workplace: Other

10 genes

10 reviewed, 8 green

List Gene Reviews Mode of inheritance Details
10 genes
Green Green List (high evidence)
C3
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hemolytic uremic syndrome, atypical, susceptibility to, 5, 612925
Green Green List (high evidence)
CD46
3 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Eligibility statement prior genetic testing
Phenotypes
  • Hemolytic uremic syndrome, atypical, susceptibility to, 2 612922
Green Green List (high evidence)
CFB
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Hemolytic uremic syndrome, atypical, susceptibility to, 4 612924
Green Green List (high evidence)
CFH
3 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Eligibility statement prior genetic testing
Phenotypes
  • Hemolytic uremic syndrome, atypical, susceptibility to, 1 235400
Green Green List (high evidence)
CFHR1
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
Phenotypes
  • Hemolytic uremic syndrome, atypical, susceptibility to 235400
Green Green List (high evidence)
CFHR3
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • UKGTN
Phenotypes
  • Hemolytic uremic syndrome, atypical, susceptibility to 235400
Green Green List (high evidence)
CFI
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Radboud University Medical Center, Nijmegen
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Hemolytic uremic syndrome, atypical, susceptibility to, 3 612923
Green Green List (high evidence)
DGKE
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Hemolytic uremic syndrome, atypical, susceptibility to, 7 615008
Red Red List (low evidence)
CFHR4
1 review
1 red
Unknown
Sources
  • Other
Phenotypes
  • Age related macular degeneration
  • Atypical hemolytic uremic syndrome susceptibility
Red Red List (low evidence)
THBD
4 reviews
3 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hemolytic uremic syndrome, atypical, susceptibility to, 6, 612926
Tags
  • multifactorial

0 STRs

0 reviewed, 0 green

List STR Reviews Mode of inheritance Details
0 STRss

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