Genomics England

Membranoproliferative glomerulonephritis including C3 glomerulopathy (Version: )

Relevant disorders: PMG, MPGN, Primary Membranoproliferative Glomerulonephritis, Primary membranoproliferative glomerulonephritis, Membranoproliferative glomerulonephritis, R197

Signed off date: 22 Mar 2023

Panel types: Rare Disease 100K, GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off

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8 green entities

Entity rating	Entity	Mode of inheritance	Mode of pathogenicity	Tags
Green	C3	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	CFB	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	for-review, to_be_confirmed_NHSE
Green	CFH	BIALLELIC, autosomal or pseudoautosomal	N/A	for-review, to_be_confirmed_NHSE
Green	CFHR1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	currently-ngs-unreportable
Green	CFHR2	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	currently-ngs-unreportable, gene-checked
Green	CFHR5	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	currently-ngs-unreportable
Green	CFI	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	for-review, to_be_confirmed_NHSE
Green	DGKE	BIALLELIC, autosomal or pseudoautosomal	N/A	for-review, to_be_confirmed_NHSE

Membranoproliferative glomerulonephritis including C3 glomerulopathy (Version: 3.02.13)

Membranoproliferative glomerulonephritis including C3 glomerulopathy (Version: )