Ataxia - paediatric
Gene: ITPR1
Gillespie syndrome: 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: 14 Feb 2021, 6:48 a.m. | Last Modified: 14 Feb 2021, 6:50 a.m.
Panel Version: 0.6377
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Gillespie syndrome, MIM# 206700
Publications
Wide range of onset from birth to adulthood.
Sources: Expert listCreated: 16 Apr 2020, 11:37 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Spinocerebellar ataxia 15 MIM#606658; Spinocerebellar ataxia 29, congenital nonprogressive MIM#117360
Gene: itpr1 has been classified as Green List (High Evidence).
Gene: itpr1 has been classified as Green List (High Evidence).
gene: ITPR1 was added gene: ITPR1 was added to Ataxia - paediatric. Sources: Expert list Mode of inheritance for gene: ITPR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ITPR1 were set to Spinocerebellar ataxia 15 MIM#606658; Spinocerebellar ataxia 29, congenital nonprogressive MIM#117360 Review for gene: ITPR1 was set to GREEN