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IMPG1

interphotoreceptor matrix proteoglycan 1

HCNC Approved Symbol
IMPG1 (HGNC:6055)
Genomic Coordinates
6:75,921,114 - 76,072,662 (6q14.1)
Synonyms
IPM150, GP147, SPACR
Disease Associations
This gene is associated with the following 2 diseases in OMIM.

Diagnosed Cases

5Patients

In total, 5 patients were diagnosed with a variant in the IMPG1 gene.

Frequently observed phenotypes

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

Macular dystrophy
 1 (20.0%)
Absent electroretinogram
 1 (20.0%)
Bone spicule pigmentation of the retina
 1 (20.0%)
Nyctalopia
 1 (20.0%)
Retinal atrophy
 1 (20.0%)
IMPG1 - Gene browser | 3billion