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TYRP1

Synonyms
CAS2, CATB, GP75, OCA3, TRP, TRP1, TYRP, b-PROTEIN
External resources
Summary
This gene encodes a melanosomal enzyme that belongs to the tyrosinase family and plays an important role in the melanin biosynthetic pathway. Defects in this gene are the cause of rufous oculocutaneous albinism and oculocutaneous albinism type III.

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
25
Likely pathogenic
2
VUS
1,749
Likely benign
361
Benign
28

Patient phenotypes

Proportions of phenotypes among 27 patients carrying pathogenic or likely pathogenic variants on TYRP1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the musculoskeletal system
40.7%
Abnormality of the nervous system
29.6%
Abnormality of the eye
25.9%
Abnormality of head or neck
22.2%
Abnormality of the integument
22.2%
Abnormality of the cardiovascular system
18.5%
Growth abnormality
14.8%
Abnormality of the genitourinary system
11.1%
Abnormality of the respiratory system
11.1%
Abnormality of limbs
7.4%
Abnormality of the digestive system
7.4%
Abnormality of blood and blood-forming tissues
3.7%
Abnormality of prenatal development or birth
3.7%
Abnormality of the ear
3.7%
Abnormality of the immune system
3.7%
Constitutional symptom
3.7%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Neoplasm
0%

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