Details of Disease

General Information of Disease (ID: DISSUKEW)

Disease Name RP2-related retinopathy
Synonyms RP2; retinitis pigmentosa type 2; retinitis pigmentosa 2; RP2 retinitis pigmentosa; retinitis pigmentosa caused by mutation in RP2; RP2 retinopathy
Definition A retinopathy caused by variants in the X-linked gene, RP2.
Disease Hierarchy
DISGGL77: Inherited retinal dystrophy
DISSUKEW: RP2-related retinopathy

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
RP2 OTK050I3 Definitive X-linked [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.