Details of Disease

General Information of Disease (ID: DISRKR4Z)

Disease Name EYS-related retinopathy
Definition An inherited retinopathy caused by bi-allelic variants in the EYS gene.
Disease Hierarchy
DISGGL77: Inherited retinal dystrophy
DISRKR4Z: EYS-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
EYS OT0NBPL5 Definitive Autosomal recessive [1]
------------------------------------------------------------------------------------

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.