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GENATLAS PHENOTYPE

last update : 15-02-2012

Symbol	CSNB1C
Location	15q13.3
HGNC id	7146
Name	blindness night congenital, stationary 1C
Other name(s)	night blindness, congenital, stationary, type I CSNB, complete, autosomal recessive
Corresponding gene	TRPM1
Other symbol(s)	CSNB1C
Main clinical features	lack of night vision , with normal day vision defective signaling from photoreceptor to bipolar cells, is characterized by a reduced or absent b-wave and a normal a-wave in the electroretinogram (ERG) normal retina on the basis of funduscopy complete type is associated with a drastically reduced rod b-wave response because of ON-bipolar cell dysfunction but largely normal cone b-wave amplitudes (PMID: 22325361))
Genetic determination	autosomal recessive
Function/system disorder	eye
Type	disease

Gene product

Name	transient receptor potential cation channel, subfamily M, member 1

Remark(s)

. mutations leading to disruption of the ON-bipolar cell response, and to complete CSNB (PMID:22325361))