Research panel - Severe Paediatric Disorders
Gene: ITPR1

ITPR1 (inositol 1,4,5-trisphosphate receptor type 1)
EnsemblGeneIds (GRCh38): ENSG00000150995
EnsemblGeneIds (GRCh37): ENSG00000150995
OMIM: 147265, Gene2Phenotype
ITPR1 is in 13 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: ITPR1; Recommended initial gene rating: Green List (high evidence); Phenotypes: Gillespie syndrome, 206700 (3) | Spinocerebellar ataxia 15, 606658 (3) | Spinocerebellar ataxia 29, congenital nonprogressive, 117360 (3); Mode of inheritance: Autosomal recessive, Autosomal dominant | Autosomal dominant | Autosomal dominant
Created: 20 Feb 2020, 5:21 p.m. | Last Modified: 20 Feb 2020, 5:21 p.m.

Panel Version: 0.12

Created: 20 Feb 2020, 5:21 p.m.
Last Modified: 20 Feb 2020, 5:21 p.m.
Panel version: 0.12

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Next Generation Children Project
Expert Review Green
Expert list

Phenotypes

Spinocerebellar ataxia 15, 606658
Gillespie syndrome, 206700
Spinocerebellar ataxia 29, congenital nonprogressive, 117360

OMIM

147265

Clinvar variants

Variants in ITPR1

Penetrance

None

Publications

30847515

Panels with this gene