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MITF

Synonyms
CMM8, COMMAD, MI, MITF-A, WS2, WS2A, bHLHe32
External resources
Summary
The protein encoded by this gene is a transcription factor that contains both basic helix-loop-helix and leucine zipper structural features. The encoded protein regulates melanocyte development and is responsible for pigment cell-specific transcription of the melanogenesis enzyme genes. Heterozygous mutations in the this gene cause auditory-pigmentary syndromes, such as Waardenburg syndrome type 2 and Tietz 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
9
Likely pathogenic
2
VUS
2,193
Likely benign
1,868
Benign
417

Patient phenotypes

Proportions of phenotypes among 11 patients carrying pathogenic or likely pathogenic variants on MITF gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the ear
72.7%
Abnormality of the eye
27.3%
Abnormality of the integument
27.3%
Abnormality of the nervous system
27.3%
Abnormality of head or neck
18.2%
Abnormality of the musculoskeletal system
18.2%
Abnormality of limbs
9.1%
Abnormality of the breast
9.1%
Abnormality of the cardiovascular system
9.1%
Abnormality of the endocrine system
9.1%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the digestive system
0%
Abnormality of the genitourinary system
0%
Abnormality of the immune system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Growth abnormality
0%
Neoplasm
0%

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