Description
Familial haematuria eligibility statement:

Familial haematuria inclusion criteria (30743)
- Persistent microscopic haematuria AND one or both of: 
- Family history of kidney failure or microscopic haematuria 
- Kidney biopsy showing characteristic electron micrographic features of Alport syndrome or thin glomerular basement membrane nephropathy

Individuals with severe or syndromic disease should be recruited according to standard guidance, typically as trios. 
Disease status of apparently unaffected participants should be determined according to standard clinical practice to detect cryptic disease.  
In other cases, unaffected individuals should not be recruited. Recruitment in such families should favour multiplex families over single isolated cases. These singleton recruits will not contribute to the overall singleton monitoring metrics applied to GMCs.

Familial haematuria exclusion criteria (30743)
- Known or suspected renal or urinary tract malignancy
- Known or suspected renal calculi
- Known monogenic cause of microscopic haematuria

Prior genetic testing guidance (30743)
- 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.

Familial haematuria prior genetic testing genes (30743)
Testing of the following genes should be carried out PRIOR TO RECRUITMENT where this is in line with current local practice:
COL4A3, COL4A4 and COL4A5 where indicated by the phenotype.

Closing statement (30743)
These requirements will be kept under continual review during the main programme and may be subject to change.

4 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

8 Entities

8 reviewed, 5 green

List Entity Reviews Mode of inheritance Details
8 Entitiess
Green Green List (high evidence)
COL4A1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
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
3 reviews
1 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
  • 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
3 reviews
1 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
  • 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
2 reviews
1 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
  • 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
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
Phenotypes
  • Macrothrombocytopaenia
  • leukocyte inclusion bodies
  • sensorineural deafness
  • proteinuria
  • haematuria
  • cataracts
  • renal failure
Tags
Red Red List (low evidence)
CFHR5
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Red
  • Literature
Phenotypes
  • Haematuria
  • C3 glomerulopathy
  • kidney failure
  • macroscopic haematuria
Tags
Red Red List (low evidence)
COL4A6
2 reviews
Not set
Sources
  • Expert Review Red
  • 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
2 reviews
1 red
Not set
Sources
  • Expert Review Red
  • UKGTN
Phenotypes
  • Hematuria, Benign Familial
  • Alport Syndrome, X-Linked
  • Alport Syndrome, Autosomal Recessive
  • Alport Syndrome, Autosomal Dominant
  • Nephrotic Syndrome, Type 2
Tags

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