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Details of Gene

Item Details
Gene/Locus name

TMEM43 (also called MGC3222,DKFZp586G1919,LUMA)

Long Name

transmembrane protein 43 (OMIM 612048)

Associated Disorders

OMIM 604400 : Arrhythmogenic right ventricular dysplasia 5
OMIM 614302 : Emery-Dreifuss muscular dystrophy 7, AD

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.

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