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GENATLAS PHENOTYPE

last update : 01-12-2020

Symbol	RP47
Location	2q37.1
Name	retinitis pigmentosa 47
Corresponding gene	SAG
Main clinical features	pigmentary retinal degeneration associated withor not golden-yellow reflex in the peripheral fundus angiography demonstrated partial chorioretinal atrophy particularly along the vascular arcade, with or without macular involvement
Genetic determination	autosomal recessive
	autosomal dominant
Function/system disorder	eye
Type	disease

Remark(s)

C147F, which causes dominant retinitis pigmentosa (PMID: 29305604))