Genes in panel

Hereditary ataxia - adult onset

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 15 panels

3 reviews

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Green List (high evidence)

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)

I don't know

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)

Green List (high evidence)

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

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

History Filter Activity

27 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GMS was added to ITPR1.

15 Apr 2019, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Spinocerebellar ataxia 29, 117360; Gillespie syndrome, 206700; Spinocerebellar ataxia 15, 606658 for gene: ITPR1

14 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to ITPR1.

14 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source Wessex and West Midlands GLH was added to ITPR1.

9 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Checked panel against panel constituents. Ready to promote to version 1.

15 Dec 2018, Gel status: 4

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