Description
This panel is used for clinical indication 'R194 Haematuria' 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 'R194 Haematuria'.

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/99/?version=2.0) was signed off under NHS Genomic Medicine Service governance on 03/Sept/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

  • Ellen McDonagh (Genomics England Curator)

    Group: other
    Workplace: other

  • John Sayer (Newcastle University)

    Group: GeCIP domain
    Workplace: NHS clinical service

  • Daniel Gale (UCL)

    Group: GeCIP domain
    Workplace: Research lab

  • Ellen Thomas (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Eleanor Williams (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Anna de Burca (Genomics England Curator)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS clinical service

8 Entities

8 reviewed, 5 green

List Entity Reviews Mode of inheritance Details
8 Entitiess
Green Green List (high evidence)
COL4A1
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Exophytic renal cysts
  • raised creatinine kinase
  • tortuous retinal vessels
  • intracranial anuerysms
  • haematuria
  • Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps 611773
  • HANAC
Tags
Green Green List (high evidence)
COL4A3
4 reviews
2 green
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), 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
  • Alport syndrome, autosomal recessive, 203780
  • Hematuria, benign familial, 141200
  • Alport syndrome, autosomal dominant, 104200
  • Alport Syndrome
  • Hematuria, Benign Familial
  • Alport Syndrome, X-Linked
  • Alport Syndrome, Autosomal Recessive
  • Alport Syndrome, Autosomal Dominant
  • thin glomerular basement membrane nephropathy or Alport syndrome
  • Alport syndrome, autosomal dominant
  • Alport syndrome, autosomal recessive
  • Alport Syndrome
  • (originally on Alport syndrome gene panel)
Tags
Green Green List (high evidence)
COL4A4
4 reviews
2 green
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), 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
  • Alport syndrome, autosomal recessive, 203780
  • Hematuria,familial benign
  • Alport Syndrome
  • Hematuria, Benign Familial
  • Alport Syndrome, X-Linked
  • Alport Syndrome, Autosomal Recessive
  • Alport Syndrome, Autosomal Dominant
  • thin glomerular basement membrane nephropathy or Alport syndrome
  • Alport syndrome, autosomal recessive
  • (originally on Alport syndrome gene panel)
Tags
Green Green List (high evidence)
COL4A5
3 reviews
2 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • diffuse leiomyomatosis with Alport syndrome = contiguous gene syndrome with COL4A6
  • Alport syndrome, 301050
  • Hematuria, Benign Familial
  • Alport Syndrome, X-Linked
  • Alport Syndrome, Autosomal Recessive
  • Alport Syndrome, Autosomal Dominant
  • thin glomerular basement membrane nephropathy or Alport syndrome
  • Alport syndrome
  • (originally on Alport syndrome gene panel)
Tags
Green Green List (high evidence)
MYH9
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Macrothrombocytopaenia
  • leukocyte inclusion bodies
  • sensorineural deafness
  • proteinuria
  • haematuria
  • cataracts
  • renal failure
  • Epstein syndrome, 153650
  • Fechtner syndrome, 153640
Tags
Amber Amber List (moderate evidence)
CFHR5
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Amber
  • Literature
  • NHS GMS
Phenotypes
  • Haematuria
  • C3 glomerulopathy
  • kidney failure
  • macroscopic haematuria
  • Nephropathy due to CFHR5 deficiency #614809
Tags
Red Red List (low evidence)
COL4A6
3 reviews
Not set
Sources
  • Expert Review Red
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • diffuse leiomyomatosis with Alport syndrome = contiguous gene with COL4A5
  • Leiomyomatosis, diffuse, with Alport syndrome, 308940 (4)
  • diffuse leiomyomatosis with Alport syndrome = contiguous gene with COL4A5 Leiomyomatosis, diffuse, with Alport syndrome, 308940 (4)
  • (originally on Alport syndrome gene panel)
Tags
Red Red List (low evidence)
NPHS2
4 reviews
2 red
Not set
Sources
  • Expert Review Red
  • NHS GMS
  • UKGTN
Phenotypes
  • Hematuria, Benign Familial
  • Alport Syndrome, X-Linked
  • Alport Syndrome, Autosomal Recessive
  • Alport Syndrome, Autosomal Dominant
  • Nephrotic Syndrome, Type 2
  • ?Modifier of COL4A variants
Tags

Major version comments

Downloads

Download lists

Download Version