CFH

complement factor H
OMIM: 134370, Gene2Phenotype

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Green CFH in Vasculitis Level 2: Immunological disorders Version 0.82	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Red CFH in Haematuria_Alport Level 2: Renal and urinary tract disorders Version 1.1 Component of the following Super Panels: Kidneyome_SuperPanel Renal Glomerular Disease_SuperPanel	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Complement factor H deficiency, MIM#609814
Green CFH in Mendeliome Version 1.1902	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Basal laminar drusen MIM#126700 Complement factor H deficiency MIM#609814 {Hemolytic uremic syndrome, atypical, susceptibility to, 1} MIMI#235400
Green CFH 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	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Expert Review Green
Green CFH in Complement Deficiencies Level 2: Immunological disorders Version 0.73 Component of the following Super Panels: Immunological disorders_SuperPanel	review	Unknown	Sources Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Expert Review Green
Red CFH 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 Complement factor H deficiency, MIM#609814
Green CFH in Macular Dystrophy/Stargardt Disease Level 2: Ophthalmological disorders Version 0.45 Component of the following Super Panels: Retinal Disorders Superpanel	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Basal laminar drusen, 126700
Green CFH in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Complement factor H deficiency, 609814 (3)
Red CFH 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
Green CFH in Prepair 1000+ Level 2: Screening Version 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Complement factor H deficiency, 609814 (3)
Green CFH in BabyScreen+ newborn screening Level 2: Screening Version 1.114	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BabySeq Category C gene Phenotypes Complement factor H deficiency, MIM# 609814 Tags treatable immunological