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  3. CFHR2
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Atypical Haemolytic Uraemic Syndrome_MPGN

Gene: CFHR2

Green List (high 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)

Green List (high evidence)

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.
Sources: Expert list
Created: 9 Jan 2020, 4:24 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
C3 glomerulopathy; C3G; Immune complex MPGN; IC-MPGN

Publications

Created: 9 Jan 2020, 4:24 a.m.

Panel version: 0.13

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
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

9 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cfhr2 has been classified as Green List (High Evidence).

9 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cfhr2 has been classified as Green List (High Evidence).

9 Jan 2020, Gel status: 1

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

9 Jan 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CFHR2 was added gene: CFHR2 was added to Atypical Haemolytic Uraemic Syndrome_KidGen_VCGS_RMH. Sources: Expert list Mode of inheritance for gene: CFHR2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: CFHR2 were set to 24334459; 23728178; 20800271 Phenotypes for gene: CFHR2 were set to C3 glomerulopathy; C3G; Immune complex MPGN; IC-MPGN Review for gene: CFHR2 was set to GREEN