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Ataxia - adult onset

Gene: ITPR1

Green List (high evidence)
ITPR1 (inositol 1,4,5-trisphosphate receptor type 1)
EnsemblGeneIds (GRCh38): ENSG00000150995
EnsemblGeneIds (GRCh37): ENSG00000150995
OMIM: 147265, Gene2Phenotype
ITPR1 is in 12 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

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

Created: 14 Feb 2021, 6:48 a.m.
Last Modified: 14 Feb 2021, 6:50 a.m.
Panel version: Imported from Mendeliome panel version 0.6374

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Wide range of onset from birth to adulthood.
Sources: Expert list
Created: 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

Created: 16 Apr 2020, 11:37 p.m.

Panel version: Imported from Mendeliome panel version Imported from Ataxia - paediatric panel version 0.119

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
  • Royal Melbourne Hospital
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Gillespie syndrome, 206700
  • Spinocerebellar ataxia 29
  • Spinocerebellar ataxia 29, 117360
  • Spinocerebellar ataxia 15
  • Spinocerebellar ataxia 15, 606658
OMIM
147265
Clinvar variants
Variants in ITPR1
Penetrance
None
Panels with this gene

History Filter Activity

19 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: ITPR1 was added gene: ITPR1 was added to Ataxia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: ITPR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ITPR1 were set to Gillespie syndrome, 206700; Spinocerebellar ataxia 29; Spinocerebellar ataxia 29, 117360; Spinocerebellar ataxia 15; Spinocerebellar ataxia 15, 606658