Cerebellar hypoplasia
Gene: ITPR1EnsemblGeneIds (GRCh38): ENSG00000150995
EnsemblGeneIds (GRCh37): ENSG00000150995
OMIM: 147265, Gene2Phenotype
ITPR1 is in 13 panels
2 reviews
Alice Gardham (Genomics England)
Comment when marking as ready: Offered on UKTN inherited ataxia panel. Eligibility criteria for this category.Created: 3 Nov 2016, 11:10 a.m.
Ellen McDonagh (Genomics England Curator)
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
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Other
- Eligibility statement prior genetic testing
- Phenotypes
-
- Spinocerebellar ataxia 15
- Spinocerebellar ataxia 29, congenital nonprogressive
- Gillespie syndrome 206700
- OMIM
- 147265
- Clinvar variants
- Variants in ITPR1
- Penetrance
- Complete
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary ataxia with onset in adulthood
- Hereditary neuropathy
- Ataxia and cerebellar anomalies - narrow panel
- Sporadic aniridia
- DDG2P
- Cerebellar hypoplasia
- Structural eye disease
- Intellectual disability
- Hereditary ataxia
- Fetal anomalies
- Hereditary neuropathy or pain disorder
- Adult onset neurodegenerative disorder
History Filter Activity
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)22/02/2017: Panel revised after internal clinical review and further curation.
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Alice Gardham (Genomics England)Phenotypes for gene ITPR1 were set to Spinocerebellar ataxia 15; Spinocerebellar ataxia 29, congenital nonprogressive; Gillespie syndrome 206700
Upload gene information
Alice Gardham (Genomics England)ITPR1 was added to Cerebellar hypoplasiapanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN,Emory Genetics Laboratory
Set Mode of Inheritance
Alice Gardham (Genomics England)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
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for gene ITPR1 were set to Spinocerebellar ataxia 15; Spinocerebellar ataxia 29, congenital nonprogressive
Upload gene information
Ellen McDonagh (Genomics England Curator)ITPR1 was added to Cerebellar hypoplasiapanel. Sources: Other
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene ITPR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for gene ITPR1 were set to Spinocerebellar ataxia 15; Spinocerebellar ataxia 29, congenital nonprogressive
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for gene ITPR1 were set to Spinocerebellar ataxia 15; Spinocerebellar ataxia 29, congenital nonprogressive
Created
Ellen McDonagh (Genomics England Curator)ITPR1 was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)ITPR1 was added to Cerebellar hypoplasiapanel. Sources: Eligibility statement prior genetic testing