Details of Disease | DrugMAP

General Information of Disease (ID: DIS3QXVN)

Disease Name	Recombinase activating gene 1 deficiency
Synonyms	recombinase activating gene 1 deficiency
Definition	A severe combined immunodeficiency that is the result of a mutation on Chromosome 6 RAG1 gene involving genetic rearrangement of both the T- and B-lymphocyte receptor genes.
Disease Hierarchy	DIS6MF4Q: Severe combined immunodeficiency DIS3QXVN: Recombinase activating gene 1 deficiency

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
RAG1	OTV131E4	Definitive	Autosomal recessive	[1]
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References

1	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.