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Details of Gene

Item Details
Gene/Locus name

ALDH18A1 (also called P5CS)

Long Name

aldehyde dehydrogenase 18 family member A1 (OMIM 138250)

Laboratories
Associated Disorders

OMIM 616586 : Spastic paraplegia 9B, autosomal recessive
OMIM 601162 : Spastic paraplegia 9A, autosomal dominant
OMIM 616603 : Cutis laxa, autosomal dominant 3
OMIM 219150 : Cutis laxa, autosomal recessive, type IIIA

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

13/10/2016