Cerebellar hypoplasia
Gene: ITPR1Comment when marking as ready: Offered on UKTN inherited ataxia panel. Eligibility criteria for this category.Created: 3 Nov 2016, 11:10 a.m.
Mode of inheritance and phenotypes sourced from OMIM.Created: 8 Jan 2016, 10:02 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Spinocerebellar ataxia 15; Spinocerebellar ataxia 29, congenital nonprogressive
22/02/2017: Panel revised after internal clinical review and further curation.
This gene has been classified as Green List (High Evidence).
Phenotypes for gene ITPR1 were set to Spinocerebellar ataxia 15; Spinocerebellar ataxia 29, congenital nonprogressive; Gillespie syndrome 206700
ITPR1 was added to Cerebellar hypoplasiapanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN,Emory Genetics Laboratory
Model of inheritance for gene ITPR1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes for gene ITPR1 were set to Spinocerebellar ataxia 15; Spinocerebellar ataxia 29, congenital nonprogressive
ITPR1 was added to Cerebellar hypoplasiapanel. Sources: Other
Model of inheritance for gene ITPR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene ITPR1 were set to Spinocerebellar ataxia 15; Spinocerebellar ataxia 29, congenital nonprogressive
Phenotypes for gene ITPR1 were set to Spinocerebellar ataxia 15; Spinocerebellar ataxia 29, congenital nonprogressive
ITPR1 was created by ellenmcdonagh
ITPR1 was added to Cerebellar hypoplasiapanel. Sources: Eligibility statement prior genetic testing