Hereditary ataxia with onset in adulthood
Gene: ITPR1EnsemblGeneIds (GRCh38): ENSG00000150995
EnsemblGeneIds (GRCh37): ENSG00000150995
OMIM: 147265, Gene2Phenotype
ITPR1 is in 13 panels
3 reviews
James Polke (Neurogenetics Laboratory, Institute of Neurology, London)
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.
Louise Daugherty (Genomics England Curator)
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.
Tracy Lester (Genetics laboratory, Oxford UK)
LoF variants including large deletions reported in SCA15. Missense varaints often associated with dominant negative effect reported in SCA29 and GSCreated: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
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
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- London North GLH
- NHS GMS
- Wessex and West Midlands GLH
- Expert Review Green
- Hereditary ataxia v1.148
- Phenotypes
-
- Spinocerebellar ataxia 15, 606658
- Gillespie syndrome, 206700
- Spinocerebellar ataxia 15
- Spinocerebellar ataxia 29
- Spinocerebellar ataxia 29, 117360
- OMIM
- 147265
- Clinvar variants
- Variants in ITPR1
- Penetrance
- None
- Mode of Pathogenicity
- Other - please provide details in the comments
- Panels with this gene
-
- Intellectual disability
- 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
- Hereditary ataxia
- Fetal anomalies
- Hereditary neuropathy or pain disorder
- Adult onset neurodegenerative disorder
History Filter Activity
Added New Source
Louise Daugherty (Genomics England Curator)Source London North GMS was added to ITPR1.
Set Phenotypes
Louise Daugherty (Genomics England Curator)Added phenotypes Spinocerebellar ataxia 29, 117360; Gillespie syndrome, 206700; Spinocerebellar ataxia 15, 606658 for gene: ITPR1
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to ITPR1.
Added New Source
Louise Daugherty (Genomics England Curator)Source Wessex and West Midlands GLH was added to ITPR1.
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked panel against panel constituents. Ready to promote to version 1.
Created, Added New Source, Set mode of inheritance, Set Phenotypes, Set mode of pathogenicity
Eleanor Williams (Genomics England Curator)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