DIAPH1 (also called hDIA1,LFHL1)

diaphanous related formin 1 (OMIM 602121)

OMIM 616632 : Seizures, cortical blindness, microcephaly syndrome
OMIM 124900 : Deafness, autosomal dominant 1

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.

6/12/2018