[Error loading the WebPart 'GTL_RCPAGeneticsLogin' of type 'RCPALogin']

Details of Gene

Item Details
Gene/Locus name

CHMP4B (also called dJ553F4.4,Shax1,SNF7-2,VPS32B)

Long Name

charged multivesicular body protein 4B (OMIM 610897)

Laboratories
Associated Disorders

OMIM 605387 : Cataract 31, multiple types

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

27/08/2015