1. Panels
  2. Complement Deficiencies
  3. CFHR1
STRs in panel
Prev Next
Regions in panel
Prev Next

Complement Deficiencies

Gene: CFHR1

Red List (low evidence)
CFHR1 (complement factor H related 1)
EnsemblGeneIds (GRCh38): ENSG00000244414
EnsemblGeneIds (GRCh37): ENSG00000244414
OMIM: 134371, Gene2Phenotype
CFHR1 is in 6 panels

2 reviews

Elena Savva (Victorian Clinical Genetics Services)

I don't know

PMID: 32424742 - Czech cohort of chlidren with aHUS, many had a whole gene deletion of CFHR1/CFHR3. Patients were either hom, or het with a 2nd mutation in another gene. A single patient was homozygous for the CFHR1 deletion, but was only heterozygous for the CFHR3 deletion.

Reports of SNVs are minimal in pubmed and OMIM/Decipher/ClinVar
Created: 11 Feb 2021, 1:35 a.m. | Last Modified: 11 Feb 2021, 1:35 a.m.
Panel Version: 0.6314

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
{Hemolytic uremic syndrome, atypical, susceptibility to} MIM#235400; {Macular degeneration, age-related, reduced risk of} MIM#603075

Publications

Created: 11 Feb 2021, 1:35 a.m.
Last Modified: 11 Feb 2021, 1:35 a.m.
Panel version: Imported from Mendeliome panel version 0.6314

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Association is with aHUS and gene is included in aHUS panel.
Created: 10 Apr 2020, 3:16 a.m. | Last Modified: 10 Apr 2020, 3:16 a.m.
Panel Version: 0.12
Created: 10 Apr 2020, 3:16 a.m.
Last Modified: 10 Apr 2020, 3:16 a.m.
Panel version: 0.12

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Red
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
OMIM
134371
Clinvar variants
Variants in CFHR1
Penetrance
None
Panels with this gene

History Filter Activity

10 Apr 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cfhr1 has been classified as Red List (Low Evidence).

10 Apr 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cfhr1 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: CFHR1 was added gene: CFHR1 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: CFHR1 was set to Unknown