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GENATLAS PHENOTYPE

last update : 05-01-2010

Symbol	ATS2
Location	2q36.3
Name	Alport syndrome 2
Corresponding gene	COL4A3 , COL4A4
Main clinical features	progressive inherited nephropathy characterized by irregular thinning, thickening and splitting of the glomerular basement membrane (GBM) often associated with hearing loss and ocular symptoms
Genetic determination	autosomal recessive
Function/system disorder	ear
	kidney and urinary tract
Type	disease

Remark(s)