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CFHR5

Synonyms
CFHL5, CFHR5D, FHR-5, FHR5
External resources
Summary
This gene is a member of a small complement factor H (CFH) gene cluster on chromosome 1. Each member of this gene family contains multiple short consensus repeats (SCRs) typical of regulators of complement activation. The protein encoded by this gene has nine SCRs with the first two repeats having heparin binding properties, a region within repeats 5-7 having heparin binding and C reactive protein binding properties, and the C-terminal repeats being similar to a complement component 3 b (C3b) binding domain. This protein co-localizes with C3, binds C3b in a dose-dependent manner, and is recruited to tissues damaged by C-reactive protein. Allelic variations in this gene have been associated, but not causally linked, with two different forms of kidney disease: membranoproliferative glomerulonephritis type II (MPGNII) and hemolytic uraemic syndrome (HUS).

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
39
Likely pathogenic
7
VUS
853
Likely benign
1,776
Benign
1,946

Patient phenotypes

Proportions of phenotypes among 45 patients carrying pathogenic or likely pathogenic variants on CFHR5 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
37.8%
Abnormality of the musculoskeletal system
33.3%
Abnormality of head or neck
31.1%
Abnormality of the eye
26.7%
Abnormality of limbs
20%
Growth abnormality
20%
Abnormality of the cardiovascular system
17.8%
Abnormality of the ear
15.6%
Abnormality of the integument
13.3%
Abnormality of the digestive system
11.1%
Abnormality of blood and blood-forming tissues
8.9%
Abnormality of the genitourinary system
6.7%
Abnormality of prenatal development or birth
4.4%
Abnormality of the endocrine system
4.4%
Abnormality of the respiratory system
4.4%
Abnormality of the immune system
2.2%
Constitutional symptom
2.2%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Neoplasm
0%

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