Description
This panel is used for clinical indication 'R201 Atypical haemolytic uraemic syndrome' in the NHS Genomic Medicine Service.

Further information on the testing criteria and any overlapping clinical indications can be found within (https://www.england.nhs.uk/publication/national-genomic-test-directories/) under 'R201 Atypical haemolytic uraemic syndrome'.

The content of this panel is overseen by the NHS Genomic Medicine Service governance. In addition to the evidence for a gene:disease association, this requires consideration of technical aspects regarding the assay(s) available.

If this panel is not being delivered by WGS, CNVs and STRs may not be routinely included in the analysis. Please contact your local Genomic Laboratory Hub for information regarding specific queries.

This panel was originally developed for the 100,000 Genomes Project and is still being used for participants in the project.  For the rare disease eligibility criteria refer to: https://www.genomicsengland.co.uk/rarediseasecriteria100K

5 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

  • Eleanor Williams (Genomics England Curator)

    Group: Other
    Workplace: Other

13 Entities

13 reviewed, 8 green

List Entity Reviews Mode of inheritance Details
13 Entitiess
Green Green List (high evidence)
C3
4 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hemolytic uremic syndrome, atypical, susceptibility to, 5, 612925
Tags
Green Green List (high evidence)
CD46
4 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Hemolytic uremic syndrome, atypical, susceptibility to, 2 612922
Tags
Green Green List (high evidence)
CFB
4 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
Phenotypes
  • Hemolytic uremic syndrome, atypical, susceptibility to, 4 612924
Tags
Green Green List (high evidence)
CFH
4 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Hemolytic uremic syndrome, atypical, susceptibility to, 1 235400
Tags
Green Green List (high evidence)
CFHR1
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • UKGTN
Phenotypes
  • Hemolytic uremic syndrome, atypical, susceptibility to 235400
Tags
Green Green List (high evidence)
CFI
4 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Hemolytic uremic syndrome, atypical, susceptibility to, 3 612923
Tags
Green Green List (high evidence)
DGKE
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Hemolytic uremic syndrome, atypical, susceptibility to, 7 615008
Tags
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
Tags
Red Red List (low evidence)
CFHR4
1 review
1 red
Unknown
Sources
  • Other
Phenotypes
  • Age related macular degeneration
  • Atypical hemolytic uremic syndrome susceptibility
Tags
Red Red List (low evidence)
INF2
1 review
Not set
Sources
  • NHS GMS
Tags
Red Red List (low evidence)
MMACHC
1 review
Not set
Sources
  • NHS GMS
Tags
Red Red List (low evidence)
THBD
5 reviews
3 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hemolytic uremic syndrome, atypical, susceptibility to, 6, 612926
Tags
  • multifactorial
Red Red List (low evidence)
VTN
1 review
Not set
Sources
  • NHS GMS
Tags

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