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Details of Gene

Item Details
Gene/Locus name

SLC25A4 (also called T1)

Long Name

solute carrier family 25 member 4 (OMIM 103220)

Laboratories
Associated Disorders

OMIM 617184 : Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD
OMIM 615418 : Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR
OMIM 609283 : Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2

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