Hereditary ataxia
Gene: ITPR1Comment 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.
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
This gene has been classified as Green List (High Evidence).
Mode of pathogenicity for ITPR1 was changed to Other - please provide details in the comments
Model of inheritance for gene ITPR1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
ITPR1 was added to Hereditary ataxiapanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,UKGTN
Model of inheritance for gene ITPR1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
ITPR1 was added to Hereditary ataxiapanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,UKGTN
ITPR1 was added to Hereditary ataxiapanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,UKGTN