Hereditary ataxia - adult onsetGene: ITPR1
On Oxford and Sheffield panels. Ataxia is a prominent feature of Gillespie syndrome. 64 DM on HGMD.
Created: 27 Apr 2019, 7:39 p.m.
Review and rating submitted by James Polke (Neurogenetics Laboratory, Institute of Neurology, London) on behalf of London North GLH for GMS Neurology specialist test group
Created: 27 Apr 2019, 8:55 p.m.
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.
Created: 15 Apr 2019, 10:21 a.m.
LoF variants including large deletions reported in SCA15. Missense varaints often associated with dominant negative effect reported in SCA29 and GS
Created: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Gillespie syndrome, 206700, Spinocerebellar ataxia 15, 606658, Spinocerebellar ataxia 29, 117360
Mode of pathogenicity
Other - please provide details in the comments
Variants in this GENE are reported as part of current diagnostic practice
Source London North GMS was added to ITPR1.
Added phenotypes Spinocerebellar ataxia 29, 117360; Gillespie syndrome, 206700; Spinocerebellar ataxia 15, 606658 for gene: ITPR1
Source NHS GMS was added to ITPR1.
Source Wessex and West Midlands GLH was added to ITPR1.
Checked panel against panel constituents. Ready to promote to version 1.
gene: ITPR1 was added gene: ITPR1 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode 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 Mode of pathogenicity for gene: ITPR1 was set to Other - please provide details in the comments