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Membranoproliferative glomerulonephritis

Gene: CFHR1

Green List (high evidence)

CFHR1 (complement factor H related 1)
EnsemblGeneIds (GRCh38): ENSG00000244414
EnsemblGeneIds (GRCh37): ENSG00000244414
OMIM: 134371, Gene2Phenotype
CFHR1 is in 4 panels

4 reviews

Anna de Burca (Genomics England Curator)

Green List (high evidence)

See comment by Louise Daugherty 9 Jul 2017 and as discussed by GMS renal specialist test group 04.02.19, since SNVs in this gene do not have a confirmed disease association, for the purposes of the Genomic Medicine Service this gene will be tested by dosage analysis only.
Created: 28 Mar 2019, 7:07 a.m.

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

Arianna Tucci (Genomics England Curator)

Comment when marking as ready: Marked as ready after clinical review
Created: 15 Dec 2017, 3:33 p.m.

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

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

Publications

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Pertinent gene but cannot be reported on : Variants known to be associated to MPGN but cannot be detected due to type of variant consequence which currently cannot be detected by NGS pipeline. Mutations cause gain of function effects. The pathogenic mutations in CFHR5, CFHR1 and CFHR2 that are known to cause PMG are all gene duplication/fusion/rearrangement events which all lead to the production of elongated proteins, see Gale, 20800271; Tortajada 23728178; Chen, 24334459. Single nucleotide variants (and even frameshifts/premature stop codons) in these particular genes are not (yet) established as pertinent findings since they would be novel compared with what is already known about the genetics of PMG.
Created: 9 Jul 2017, 8:52 a.m.
Comment on list classification: Changed to Green but added tag currently-ngs-unreportable
Created: 5 Jun 2017, 3:55 p.m.

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • C3 glomerulopathy
  • C3G
  • Immune complex MPGN
  • IC-MPGN
  • Hemolytic uremic syndrome, atypical, susceptibility to, 235400
  • Immune-complex-mediated MPGN
Tags
currently-ngs-unreportable
OMIM
134371
Clinvar variants
Variants in CFHR1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

15 Dec 2017, Gel status: 3

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

15th December 2017. Panel reviews were assessed, and panel was revised according to reviews and further curation by Arianna Tucci and Louise Daugherty

15 Dec 2017, Gel status: 3

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

5 Jun 2017, Gel status: 4

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

5 Jun 2017, Gel status: 0

Added New Source

Anonymous ()

CFHR1 was added to Primary Membranoproliferative Glomerulonephritispanel. Sources: Expert list

5 Jun 2017, Gel status: 0

Created

Anonymous ()

CFHR1 was created by Anonymous