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 3.10	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 3.14	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Complement factor H deficiency, OMIM:609814, {Hemolytic uremic syndrome, atypical, susceptibility to, 1}, OMIM:235400
Green in Primary immunodeficiency or monogenic inflammatory bowel disease R-numbers: R15 Signed-off version 9.91	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Complement factor H deficiency, OMIM:609814, {Hemolytic uremic syndrome, atypical, susceptibility to, 1}, OMIM:235400
Green in Retinal disorders R-numbers: R32 Signed-off version 9.14	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes {Macular degeneration, age-related, 4} 610698, Basal laminar drusen, 126700