Hereditary ataxia
Gene: ITPR1EnsemblGeneIds (GRCh38): ENSG00000150995
EnsemblGeneIds (GRCh37): ENSG00000150995
OMIM: 147265, Gene2Phenotype
ITPR1 is in 13 panels
2 reviews
Damian Smedley (Genomics England Curator)
Comment when marking as ready: Good evidence from OMIM and expert reviewCreated: 2 Feb 2016, 10:02 a.m.
Comment on mode of pathogenicity: loss-of-function for SCA15 (SPINOCEREBELLAR ATAXIA 15, OMIM: 606658), and dominant-negative/gain-of-function for SCA29 (SPINOCEREBELLAR ATAXIA 29, OMIM #117360)Created: 2 Feb 2016, 10:01 a.m.
Jonathan Williams (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust)
Fine. Lots of evidence in lit. Mode of pathogenicity: loss-of-function for SCA15 (SPINOCEREBELLAR ATAXIA 15, OMIM: 606658), and dominant-negative? gain-of-function for SCA29 (SPINOCEREBELLAR ATAXIA 29, OMIM #117360).Created: 24 Nov 2015, 4:57 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
SPINOCEREBELLAR ATAXIA 15; SPINOCEREBELLAR ATAXIA 29
Mode of pathogenicity
Other - please provide details in the comments
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Spinocerebellar ataxia 29
- Spinocerebellar ataxia 15
- OMIM
- 147265
- Clinvar variants
- Variants in ITPR1
- Penetrance
- Complete
- Mode of Pathogenicity
- Other - please provide details in the comments
- Panels with this gene
-
- Adult onset neurodegenerative disorder
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary ataxia with onset in adulthood
- Hereditary neuropathy
- Hereditary neuropathy or pain disorder
- Ataxia and cerebellar anomalies - narrow panel
- Sporadic aniridia
- DDG2P
- Fetal anomalies
- Cerebellar hypoplasia
- Structural eye disease
- Hereditary ataxia
History Filter Activity
Gene classified by Genomics England curator
Damian Smedley (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set mode of pathogenicity
Damian Smedley (Genomics England Curator)Mode of pathogenicity for ITPR1 was changed to Other - please provide details in the comments
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene ITPR1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Ellen McDonagh (Genomics England Curator)ITPR1 was added to Hereditary ataxiapanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,UKGTN
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene ITPR1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Ellen McDonagh (Genomics England Curator)ITPR1 was added to Hereditary ataxiapanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,UKGTN
Added New Source
Ellen McDonagh (Genomics England Curator)ITPR1 was added to Hereditary ataxiapanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,UKGTN