Details of Disease | DrugMAP

General Information of Disease (ID: DIS4PHLJ)

Disease Name	RAB28-related retinopathy
Synonyms	cone-rod dystrophy type 18; CORD18; cone-rod dystrophy caused by mutation in RAB28; cone-rod dystrophy 18; RAB28 cone-rod dystrophy; RAB28 retinopathy
Definition	A retinopathy caused by biallelic variants in the RAB28 gene.
Disease Hierarchy	DISGGL77: Inherited retinal dystrophy DIS4PHLJ: RAB28-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
RAB28	OTZX5BP6	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.