Eye Anterior Segment Abnormalities

Gene: ITPR1

Green List (high evidence)

Gillespie syndrome is usually diagnosed in the first year of life by the presence of fixed dilated pupils in a hypotonic infant. Affected individuals have a characteristic form of iris hypoplasia in which the pupillary border of the iris exhibits a scalloped or 'festooned' edge, with iris strands extending onto the anterior lens surface at regular intervals. The key extraocular features of Gillespie syndrome are congenital hypotonia, progressive cerebellar hypoplasia, and ataxia, as well as variable cognitive impairment that is usually mild.

Multiple families reported with bi-allelic or de novo heterozygous variants.

Created: 29 Dec 2020, 7:10 a.m. | Last Modified: 29 Dec 2020, 7:10 a.m.

Panel Version: 0.33

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Gillespie syndrome, MIM# 206700

Publications

• 27108797
• 31340402
• 30242502
• 29169895