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Ataxia - paediatric

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

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Spinocerebellar ataxia 15 MIM#606658
  • Spinocerebellar ataxia 29, congenital nonprogressive MIM#117360
OMIM
147265
Clinvar variants
Variants in ITPR1
Penetrance
None
Panels with this gene

History Filter Activity

16 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: itpr1 has been classified as Green List (High Evidence).

16 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: itpr1 has been classified as Green List (High Evidence).

16 Apr 2020, Gel status: 1

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 - 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