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GENATLAS PHENOTYPE

last update : 17/07/2006

Symbol	COATS
Location	Xp11.3
HGNC id	2497
Name	Coats disease
Other name(s)	retinal telangiectasia
Corresponding gene	NDP
Other symbol(s)	CTD
Main clinical features	abnormal retinal development which results in massive subretinal lipid accumulation (exudative retinal detachment), almost invariably isolated, unilateral and seen in males, a female with a variant giving birth to a son affected with Norrie disease
Genetic determination	sex linked
Function/system disorder	eye
Type	disease

Gene product

Name	NDP, norrin, somatic mutations

Remark(s)