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GENATLAS PHENOTYPE

last update : 10/03/2012

Symbol	RP25
Location	6q12
HGNC id	10279
Name	retinitis pigmentosa 25
Corresponding gene	EYS
related resource	Retinal Information Network
Other symbol(s)	ARRP12
Main clinical features	Pakistan or Spanish form, night blindness in early childhood, early complete loss of useful vision, and typical RP fundus changes plus macular degeneration
Genetic determination	autosomal recessive
Function/system disorder	eye
Type	disease

Mechanism(s)

Gene mutation	Chromosome rearrangement	Effect	Comments
other			Six novel pathogenic copy-number variations (PMID:21519034)

Remark(s)

GABRR1 and GABRR2 candidate genes