Complement Deficiencies
Gene: CFHR2
Associated with renal phenotypes. Variants currently not detectable by NGS: the pathogenic mutations in CFHR5, CFHR1 and CFHR2 that are known to cause disease are all gene duplication/fusion/rearrangement events which all lead to the production of elongated proteins, see Gale, 20800271; Tortajada 23728178; Chen, 24334459.Created: 10 Apr 2020, 3:20 a.m. | Last Modified: 10 Apr 2020, 3:20 a.m.
Panel Version: 0.13
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
C3 glomerulopathy; C3G; Immune complex MPGN; IC-MPGN
Publications
Tag SV/CNV tag was added to gene: CFHR2.
Gene: cfhr2 has been classified as Red List (Low Evidence).
Phenotypes for gene: CFHR2 were changed from to C3 glomerulopathy; C3G; Immune complex MPGN; IC-MPGN
Publications for gene: CFHR2 were set to
Mode of inheritance for gene: CFHR2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Gene: cfhr2 has been classified as Red List (Low Evidence).
gene: CFHR2 was added gene: CFHR2 was added to Complement deficiencies_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: CFHR2 was set to Unknown