Hereditary ataxia

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 14 panels

2 reviews

Damian Smedley (Genomics England Curator)

Comment when marking as ready: Good evidence from OMIM and expert review
Created: 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)

Green List (high evidence)

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

History Filter Activity

2 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

2 Feb 2016, Gel status: 3

Set mode of pathogenicity

Damian Smedley (Genomics England Curator)

Mode of pathogenicity for ITPR1 was changed to Other - please provide details in the comments

6 Jul 2015, Gel status: 3

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

6 Jul 2015, Gel status: 3

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

6 Jul 2015, Gel status: 2

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

6 Jul 2015, Gel status: 2

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

6 Jul 2015, Gel status: 1

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