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Details of Gene

Item Details
Gene/Locus name

CHRND (also called )

Long Name

cholinergic receptor nicotinic delta subunit (OMIM 100720)

Laboratories
Associated Disorders

OMIM 253290 : Multiple pterygium syndrome, lethal type
OMIM 616322 : Myasthenic syndrome, congenital, 3B, fast-channel
OMIM 616321 : ?Myasthenic syndrome, congenital, 3A, slow-channel
OMIM 616323 : ?Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency

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

4/02/2016