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TMPRSS6

Synonyms
IRIDA, MT2
External resources
Summary
The protein encoded by this gene is a type II transmembrane serine proteinase that is found attached to the cell surface. The encoded protein may be involved in matrix remodeling processes in the liver. Alternative splicing results in multiple transcript variants.

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
19
Likely pathogenic
3
VUS
6,152
Likely benign
4,279
Benign
0

Patient Phenotypes

Proportions of phenotypes among 16 patients carrying pathogenic or likely pathogenic variants on TMPRSS6 gene are displayed below. The following symptoms were found in patients with a variant in TMPRSS6. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
50%
Abnormality of the musculoskeletal system
43.8%
Abnormality of head or neck
18.8%
Abnormality of the ear
18.8%
Growth abnormality
18.8%
Abnormality of the cardiovascular system
12.5%
Abnormality of the immune system
12.5%
Abnormality of the integument
12.5%
Abnormality of blood and blood forming tissues
6.3%
Abnormality of metabolism homeostasis
6.3%
Abnormality of the digestive system
6.3%
Abnormality of the eye
6.3%
Abnormality of the respiratory system
6.3%
Abnormal cellular phenotype
0%
Abnormality of limbs
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the genitourinary system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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