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GENATLAS PHENOTYPE

last update : 22-03-2020

Symbol	MYP27
Location	8q24.3
Name	myopia 27
Corresponding gene	CPSF1
Main clinical features	early-onset high myopia (eoHM), which is defined as high myopia that occurs before school age
Genetic determination	autosomal dominant
Function/system disorder	eye
Type	disease

Remark(s)

heterozygous Loss of function mutations in CPSF1 are associated with myopia (PMID: 30689892))