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Details of Gene

Item Details
Gene/Locus name

RAG1 (also called RNF74,MGC43321)

Long Name

recombination activating 1 (OMIM 179615)

Laboratories
Associated Disorders

OMIM 603554 : Omenn syndrome
OMIM 233650 : Combined cellular and humoral immune defects with granulomas
OMIM 601457 : Severe combined immunodeficiency, B cell-negative
OMIM 609889 : Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity

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