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Details of Gene

Item Details
Gene/Locus name

MED12 (also called CAGH45,HOPA,OPA1,TRAP230,KIAA0192,OKS)

Long Name

mediator complex subunit 12 (OMIM 300188)

Associated Disorders

OMIM 300895 : Ohdo syndrome, X-linked
OMIM 305450 : Opitz-Kaveggia syndrome
OMIM 309520 : Lujan-Fryns 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.

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