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'.

A version of this panel has been signed off under NHS Genomic Medicine Service governance (see 'Latest signed off version' in the panel header information).

This panel will continue to be curated based on external reviews and Genomics England curation. 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. The content that is agreed for the GMS panels will be reflected in an updated signed off version number.

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
Panel Activity

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
  • haematuria
  • Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps OMIM:611773
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 dominant OMIM:104200
  • Alport syndrome, autosomal recessive OMIM:203780
  • Hematuria, benign familial OMIM:141200
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 2, autosomal recessive OMIM:203780
  • Hematuria, familial benign OMIM:141200
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
  • Alport syndrome 1, X-linked OMIM:301050
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
  • Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss OMIM:155100
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
  • Nephropathy due to CFHR5 deficiency OMIM: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

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