CFHR1

complement factor H related 1
OMIM: 134371, Gene2Phenotype

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Green CFHR1 in Mendeliome Version 1.1891	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes {Hemolytic uremic syndrome, atypical, susceptibility to} MIM#235400
Green CFHR1 in Atypical Haemolytic Uraemic Syndrome_MPGN Level 2: Renal and urinary tract disorders Version 0.53 Component of the following Super Panels: Kidneyome_SuperPanel	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes {Hemolytic uremic syndrome, atypical, susceptibility to} MIM#235400 Tags SV/CNV
Red CFHR1 in Complement Deficiencies Level 2: Immunological disorders Version 0.73 Component of the following Super Panels: Immunological disorders_SuperPanel	review	Unknown	Sources Expert Review Red Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services
Red CFHR1 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Hemolytic uremic syndrome, atypical, susceptibility to, MIM#235400
Red CFHR1 in Additional findings_Paediatric Level 2: Screening Version 0.278	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category C gene Phenotypes Haemolytic uraemic syndrome
Red CFHR1 in BabyScreen+ newborn screening Level 2: Screening Version 1.113	review	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Haemolytic uraemic syndrome