Details of Disease | DrugMAP

General Information of Disease (ID: DISIS7NH)

Disease Name	TSPAN12-related vitreoretinopathy
Synonyms	exudative vitreoretinopathy 5; exudative vitreoretinopathy caused by mutation in TSPAN12; TSPAN12 exudative vitreoretinopathy
Definition	A vitreoretinopathy caused by variants in the TSPAN12 gene.
Disease Hierarchy	DISLZORV: Inherited vitreoretinopathy DISIS7NH: TSPAN12-related vitreoretinopathy

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
TSPAN12	OTF9I3CX	Definitive	Semidominant	[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.