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Complement Deficiencies

Gene: CFHR2

Red List (low evidence)
CFHR2 (complement factor H related 2)
EnsemblGeneIds (GRCh38): ENSG00000080910
EnsemblGeneIds (GRCh37): ENSG00000080910
OMIM: 600889, Gene2Phenotype
CFHR2 is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

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

Created: 10 Apr 2020, 3:20 a.m.
Last Modified: 10 Apr 2020, 3:20 a.m.
Panel version: 0.13

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • C3 glomerulopathy
  • C3G
  • Immune complex MPGN
  • IC-MPGN
Tags
SV/CNV
OMIM
600889
Clinvar variants
Variants in CFHR2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Apr 2020, Gel status: 1

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag SV/CNV tag was added to gene: CFHR2.

10 Apr 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cfhr2 has been classified as Red List (Low Evidence).

10 Apr 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CFHR2 were changed from to C3 glomerulopathy; C3G; Immune complex MPGN; IC-MPGN

10 Apr 2020, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CFHR2 were set to

10 Apr 2020, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: CFHR2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

10 Apr 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cfhr2 has been classified as Red List (Low Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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