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Details of Gene

Item Details
Gene/Locus name

MITF (also called MI,bHLHe32)

Long Name

melanocyte inducing transcription factor (OMIM 156845)

Laboratories
Associated Disorders

OMIM 614456 : Melanoma, cutaneous malignant, susceptibility to, 8
OMIM 103500 : Tietz albinism-deafness syndrome
OMIM 193510 : Waardenburg syndrome, type 2A
OMIM 103470 : Waardenburg syndrome/ocular albinism, digenic
OMIM 617306 : COMMAD syndrome

Interpretation / Comment

Laboratory methods do not necessarily identify all of the clinically significant variants in a gene. The failure to identify a variant does not necessarily mean that the gene is normal. Variants in a gene may cause more than one disease, and the identification of a clinically significant variant does not necessarily indicate the specific disease that the patient or relatives may be at risk of developing. Conversely, the disease/s associated with a gene might also be caused by mutations in other genes, and the failure to identify a clinically significant variant in one gene does not necessarily alter the clinical diagnosis or risk for relatives.

HGNC Last Edit Date

6/12/2018