MITF - Gene browser

MITF

melanocyte inducing transcription factor

HCNC Approved Symbol: MITF (HGNC:7105)
Genomic Coordinates: 3:69,739,464 - 69,968,332 (3p13)
Synonyms: MI, bHLHe32, WS2A, WS2
Disease Associations: This gene is associated with the following 4 diseases in OMIM.

7Patients

In total, 7 patients were diagnosed with a variant in the MITF gene.

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

07
Patient count

Hearing loss: 4 (57.1%)
Patient Count: 4 (57.1%)
% of total patients presenting each phenotype is shown in parentheses.
4 (57.1%)
Hearing impairment: 2 (28.6%)
Patient Count: 2 (28.6%)
% of total patients presenting each phenotype is shown in parentheses.
2 (28.6%)
Profound deafness: 1 (14.3%)
Patient Count: 1 (14.3%)
% of total patients presenting each phenotype is shown in parentheses.
1 (14.3%)
Severe hearing impairment: 1 (14.3%)
Patient Count: 1 (14.3%)
% of total patients presenting each phenotype is shown in parentheses.
1 (14.3%)
Aortic aneurysm: 1 (14.3%)
Patient Count: 1 (14.3%)
% of total patients presenting each phenotype is shown in parentheses.
1 (14.3%)