Genomics England

complement factor H

Panel	Mode of inheritance	Details
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Green in Atypical haemolytic uraemic syndrome Component of the following Super Panels: - Unexplained young onset end-stage renal disease R-numbers: R201 Signed-off version 3.5	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Hemolytic uremic syndrome, atypical, susceptibility to, 1 235400
Green in Membranoproliferative glomerulonephritis including C3 glomerulopathy Component of the following Super Panels: - Unexplained young onset end-stage renal disease R-numbers: R197 Signed-off version 3.4	BIALLELIC, autosomal or pseudoautosomal	Phenotypes C3 glomerulopathy, C3G, Immune complex MPGN, IC-MPGN, Hemolytic uremic syndrome, atypical, susceptibility to, 1, 235400, Dense Deposit Disease, Membranoproliferative Glomerulonephritis Type II, Immune-complex-mediated MPGN
Green in Primary immunodeficiency or monogenic inflammatory bowel disease R-numbers: R15 Signed-off version 6.12	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Complement factor H deficiency, 609814, Infections, disseminated neisserial infections, atypical Hemolytic-uremic syndrome, preeclampsia, dense deposit disease, Complement Deficiencies
Green in Retinal disorders R-numbers: R32 Signed-off version 6.16	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes {Macular degeneration, age-related, 4} 610698, Basal laminar drusen, 126700