Home Page

References

OMIM

Gene

GeneReviews

HGMD

HGNC

GENATLAS PHENOTYPE

last update : 24-05-2016

Symbol	GLSPS2
Location	3p26.1
Name	Gillespie syndrome 2
Corresponding gene	ITPR1
Main clinical features	presence of fixed dilated pupils in a hypotonic infant ophthalmologic examination reveals partial aniridia with the pupil border of the iris containing festooned edge and iris strands extending onto the anterior lens surface at regular intervals no unassisted walking or delayed ; at MRI, cerebellar atrophy, moderate to severe mental retardation
Genetic determination	autosomal recessive
	autosomal dominant
Function/system disorder	eye
	mental retardation
	eye
Type	disease

Remark(s)

four ITPR1 mutations are predicted to introduce a premature translation termination codon (PMID: 27108797))