Fetal anomalies
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

3 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group.
Created: 29 Aug 2024, 8:33 p.m. | Last Modified: 29 Aug 2024, 8:33 p.m.

Panel Version: 4.36

Created: 29 Aug 2024, 8:33 p.m.
Last Modified: 29 Aug 2024, 8:33 p.m.
Panel version: 4.36

Samantha Doyle (The National Maternity Hospital)

Red List (low evidence)

PMID: 37705153 - Case report of two unrelated fetuses with missense variants and fetal hydrops. There is nothing else in the literature re: hydrops. Re cerebellar hypoplasia, associated with Gillespie syndrome, might be detected prenatally, but not close enough association. Suggest Red
Created: 29 Aug 2024, 8:07 p.m. | Last Modified: 29 Aug 2024, 8:07 p.m.

Panel Version: 4.35

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Spinocerebellar ataxia 29, congenital nonprogressive

Publications

33082562

Created: 29 Aug 2024, 8:07 p.m.
Last Modified: 29 Aug 2024, 8:07 p.m.
Panel version: 4.35

Rebecca Foulger (Genomics England curator)

Red List (low evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Demoted ITPR1 gene rating from Amber to Red.
Created: 29 Apr 2019, 2:52 p.m.

Comment on list classification: Originally assigned an Amber rating because of different PAGE/DDG2P ratings for different disorders. Kept rating as Amber following email correspondance from Anna de Burca who notes that SCA15 is an adult onset condition and that ITPR1 is also associated with Gillespie syndrome which might possibly present prenatally with cerebellar hypoplasia but on balance it would be better to exclude. Therefore although there is sufficient evidence (>3 cases) for association with Gillespie syndrome, the phenotype is not appropriate for this Fetal panel.
Created: 7 Jan 2019, 10:41 a.m.

'watchlist' tag added to highlight different DD-G2P ratings for this gene.
Created: 8 Nov 2018, 9:01 p.m.

In the original PAGE file: rated as Probable for SPINOCEREBELLAR ATAXIA TYPE15 and SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, and rated as Confirmed for Gillespie Syndrome. In the original PAGE file, MOP listed as Dominant negative for monoallelic Gillespie Syndrome, and listed as LOF for biallelic Gillespie Syndrome and SPINOCEREBELLAR ATAXIA TYPE15. MOP listed as All missense/in frame for SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE.
Created: 8 Nov 2018, 4:46 p.m.

Created: 8 Nov 2018, 4:46 p.m.

Panel version: 0.225

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Red
PAGE DD-Gene2Phenotype

Phenotypes

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

Tags

watchlist

OMIM

147265

Clinvar variants

Variants in ITPR1

Penetrance

None

Panels with this gene

History Filter Activity

30 Aug 2024, Gel status: 1

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: ITPR1 were changed from SPINOCEREBELLAR ATAXIA TYPE15; SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE; Gillespie Syndrome to Spinocerebellar ataxia 29, congenital nonprogressive, OMIM:117360; Spinocerebellar ataxia 15, OMIM:606658; Gillespie syndrome, OMIM:206700

29 Apr 2019, Gel status: 1