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GENATLAS PHENOTYPE

last update : 26-11-2020

Symbol	RP79
Location	10q22.1
Name	retinitis pigmentosa 79
Corresponding gene	HK1
Main clinical features	night blindness and/or patchy vision from early childhood, or no discernible symptoms until well into the sixth or seventh decade of life bone spicules, attenuated blood vessels, optic disc pallor, and peripheral atrophy were commonly seen on funduscopy
Genetic determination	autosomal dominant
Function/system disorder	eye
Type	disease

Remark(s)