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

CNVs, STRs and genes encoded by the mitochondrial genome may not be routinely included in the analysis where the panel is NOT delivered by WGS. Please contact your 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

 The content of this panel (version 2.0: https://panelapp.genomicsengland.co.uk/api/v1/panels/139/?version=2.0) was signed off under NHS Genomic Medicine Service governance on (19/August/2019).

This panel will continue to be curated. New changes will be reflected in an increase to the minor version of the panel and details of these can be viewed in the 'Panel Activity' page. Periodically, these changes will be reviewed by a NHS Genomic Medicine Service evaluation process for the GMS panels.

6 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

  • David Kavanagh (Newcastle upon Tyne NHS hospitals trust)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS clinical service

13 Entities

13 reviewed, 9 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)
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
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)
MMACHC
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Methylmalonic aciduria and homocystinuria, cblC type, 277400
Tags
Red Red List (low evidence)
CFHR4
2 reviews
2 red
Unknown
Sources
  • Other
Phenotypes
  • Age related macular degeneration
  • Atypical hemolytic uremic syndrome susceptibility
Tags
Red Red List (low evidence)
INF2
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
Phenotypes
  • Charcot-Marie-Tooth disease, dominant intermediate E, 614455
  • Glomerulosclerosis, focal segmental, 5, 613237
Tags
Red Red List (low evidence)
THBD
6 reviews
4 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
  • Thrombophilia due to thrombomodulin defect 614486
Tags
  • multifactorial
Red Red List (low evidence)
VTN
2 reviews
1 red
Unknown
Sources
  • NHS GMS
Phenotypes
  • Atypical haemolytic uraemic syndrome
  • aHUS
Tags

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