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
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
List | Entity | Reviews | Mode of inheritance | Details | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Green List (high evidence) |
COL4A1 |
3 reviews2 green |
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
Sources
Phenotypes
Tags |
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Green List (high evidence) |
COL4A3 |
4 reviews2 green |
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
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Green List (high evidence) |
COL4A4 |
4 reviews2 green |
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
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Green List (high evidence) |
COL4A5 |
3 reviews2 green |
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) |
Sources
Phenotypes
Tags |
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Green List (high evidence) |
MYH9 |
3 reviews2 green |
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
Sources
Phenotypes
Tags |
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Amber List (moderate evidence) |
CFHR5 |
3 reviews2 green |
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
Sources
Phenotypes
Tags |
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Red List (low evidence) |
COL4A6 |
3 reviews |
Not set |
Sources
Phenotypes
Tags |
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Red List (low evidence) |
NPHS2 |
4 reviews2 red |
Not set |
Sources
Phenotypes
Tags |
2019-09-03 13:21 Eleanor Williams (Genomics England Curator) promoted panel to 2.0
The content of this panel (version 1.29) was signed off under NHS Genomic Medicine Service governance on (03/Sept/2019). The panel was promoted to the next major version (version 2.0) as a result of this.
Final decision on CFHR5 awaited following discussion with V and F working group.