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FTHL17

Synonyms
CT38
External resources
Summary
This gene encodes a ferritin heavy chain-like protein. This gene is primarily expressed in embryonic germ cells. The encoded protein may lack ferroxidase activity. Multiple pseudogenes of this gene are found on chromosome X.

Variant Counts

Variant classification counts, according to ACMG guideline on all identified variants among our tested samples, are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc.) are excluded.

Pathogenic
10
Likely pathogenic
1,727
VUS
1,845
Likely benign
12
Benign
0

Patient Phenotypes

Proportions of phenotypes among 1737 patients carrying pathogenic or likely pathogenic variants on FTHL17 gene are displayed below. The following symptoms were found in patients with a variant in FTHL17. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
42%
Abnormality of the musculoskeletal system
28.8%
Abnormality of head or neck
24.2%
Abnormality of the cardiovascular system
20.1%
Abnormality of the ear
17.9%
Abnormality of the eye
16.8%
Growth abnormality
15.3%
Abnormality of limbs
10.2%
Abnormality of the integument
10.2%
Abnormality of the genitourinary system
9.8%
Abnormality of metabolism homeostasis
8.3%
Abnormality of the digestive system
6.5%
Abnormality of blood and blood forming tissues
5.9%
Abnormality of the immune system
5.1%
Abnormality of the endocrine system
3.8%
Abnormality of prenatal development or birth
3.5%
Abnormality of the respiratory system
3.3%
Neoplasm
2.1%
Abnormality of the breast
0.8%
Constitutional symptom
0.7%
Abnormal cellular phenotype
0.3%
Abnormality of the voice
0.2%
Abnormality of the thoracic cavity
0%

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