This panel is used for clinical indication 'R197 Membranoproliferative glomerulonephritis including C3 glomerulopathy' 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 'R197 Membranoproliferative glomerulonephritis including C3 glomerulopathy'. 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 This panel includes BRIDGE consortium Tier 1 genes from NIHR BioResource – Rare Diseases Study (NIHRBR-RD) sent by Dr Karyn Megy, WGS Clinical Feedback Lead and incorporates pertinent genes associated to PMG. The following experts from the BRIDGE consortium NIHRBR-RD contributed to this panel : Dr Daniel Gale, University College London.
Daniel Gale (UCL)
Group: GeCIP domain
Workplace: Research lab
Sarah Leigh (Genomics England Curator)
Group: Other
Workplace: Other
Louise Daugherty (Genomics England Curator)
Group: Other
Workplace: Other
BRIDGE consortium (NIHRBR-RD)
Group: Other
Workplace: Other
Arianna Tucci (Genomics England Curator)
Group: Other
Workplace: Other
Eleanor Williams (Genomics England Curator)
Group: Other
Workplace: Other
Anna de Burca (Oxford University Hospitals NHS Foundation Trust)
Group: NHS Genomic Medicine Centre
Workplace: NHS clinical service
Ivone Leong (Genomics England Curator)
Group: Other
Workplace: Other
Catherine Snow (Genomics England)
Group: Other
Workplace: Other
David Kavanagh (Newcastle upon Tyne NHS hospitals trust)
Group: NHS Genomic Medicine Centre
Workplace: NHS clinical service
Achchuthan Shanmugasundram (Genomics England Curator)
Group: Other
Workplace: Other
| List | Entity | Reviews | Mode of inheritance | Details | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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9 Entitiess
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C3 |
6 reviews2 green 1 red |
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
Sources
Phenotypes
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CFB |
7 reviews1 green 2 red |
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
Sources
Phenotypes
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CFH |
5 reviews3 green |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
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CFHR1 |
4 reviews3 green |
BOTH monoallelic and biallelic, autosomal or pseudoautosomal |
Sources
Phenotypes
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CFHR2 |
4 reviews3 green |
BOTH monoallelic and biallelic, autosomal or pseudoautosomal |
Sources
Phenotypes
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CFHR5 |
7 reviews2 green |
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
Sources
Phenotypes
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CFI |
7 reviews2 green 2 red |
BOTH monoallelic and biallelic, autosomal or pseudoautosomal |
Sources
Phenotypes
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DGKE |
4 reviews1 green 1 red |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
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CD46 |
2 reviews1 red |
BOTH monoallelic and biallelic, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
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2023-03-22 16:05 Catherine Snow (Genomics England) promoted panel to 3.0
The content of this panel has been updated in accordance with changes agreed with the NHS Genomic Medicine Service. The panel was promoted to the next major version (3.0) following this.
2019-08-19 11:53 Ellen McDonagh (Genomics England Curator) promoted panel to 2.0
The content of this panel (version 1.16) was signed off under NHS Genomic Medicine Service governance on (19/August/2019). The panel was promoted to the next major version (version 2.0) as a result of this.
2017-12-15 16:48 Louise Daugherty (Genomics England) promoted panel to 1.0
15th December 2017. Panel reviews were assessed, and panel was revised according to reviews and further curation by Arianna Tucci and Louise Daugherty