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CFHR1

Synonyms
CFHL, CFHL1, CFHL1P, CFHR1P, FHR-1, FHR1, H36, H36-1, H36-2, HFL1, HFL2
External resources
Summary
This gene encodes a secreted protein belonging to the complement factor H protein family. It binds to Pseudomonas aeruginosa elongation factor Tuf together with plasminogen, which is proteolytically activated. It is proposed that Tuf acts as a virulence factor by acquiring host proteins to the pathogen surface, controlling complement, and facilitating tissue invasion. Mutations in this gene are associated with an increased risk of atypical hemolytic-uremic syndrome.

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
80
Likely pathogenic
6
VUS
1,503
Likely benign
1,342
Benign
72

Patient phenotypes

Proportions of phenotypes among 86 patients carrying pathogenic or likely pathogenic variants on CFHR1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
45.3%
Abnormality of the musculoskeletal system
34.9%
Abnormality of head or neck
27.9%
Abnormality of the eye
22.1%
Growth abnormality
15.1%
Abnormality of the cardiovascular system
14%
Abnormality of the ear
14%
Abnormality of the genitourinary system
12.8%
Abnormality of limbs
11.6%
Abnormality of the digestive system
11.6%
Abnormality of the integument
7%
Abnormality of the endocrine system
5.8%
Neoplasm
5.8%
Abnormality of blood and blood-forming tissues
4.7%
Abnormality of the immune system
3.5%
Abnormality of the respiratory system
3.5%
Abnormality of prenatal development or birth
1.2%
Abnormality of the breast
1.2%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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