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Membranoproliferative glomerulonephritis including C3 glomerulopathy (Version: )

Relevant disorders: PMG, MPGN, Primary Membranoproliferative Glomerulonephritis, Primary membranoproliferative glomerulonephritis, Membranoproliferative glomerulonephritis, R197
Signed off date: 5 Sept 2024
Panel types: Rare Disease 100K, GMS Rare Disease Virtual, GMS Rare Disease, Component Of Super Panel, GMS signed-off
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8 green entities
Entity ratingEntityMode of inheritanceMode of pathogenicityTags
Green
C3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypeN/A
Green
CFB
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypefor-review, to_be_confirmed_NHSE
Green
CFH
BIALLELIC, autosomal or pseudoautosomalN/Afor-review, to_be_confirmed_NHSE
Green
CFHR1
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/Acurrently-ngs-unreportable
Green
CFHR2
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/Acurrently-ngs-unreportable, gene-checked
Green
CFHR5
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypecurrently-ngs-unreportable
Green
CFI
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/Afor-review, to_be_confirmed_NHSE
Green
DGKE
BIALLELIC, autosomal or pseudoautosomalN/Afor-review, to_be_confirmed_NHSE