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Fetal anomalies

Gene: ITPR1

Red List (low evidence)

ITPR1 (inositol 1,4,5-trisphosphate receptor type 1)
EnsemblGeneIds (GRCh38): ENSG00000150995
EnsemblGeneIds (GRCh37): ENSG00000150995
OMIM: 147265, Gene2Phenotype
ITPR1 is in 15 panels

1 review

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.

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • SPINOCEREBELLAR ATAXIA TYPE15
  • SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE
  • Gillespie Syndrome
Tags
watchlist
OMIM
147265
Clinvar variants
Variants in ITPR1
Penetrance
None
Panels with this gene

History Filter Activity

29 Apr 2019, Gel status: 1

Added New Source, Status Update

Rebecca Foulger (Genomics England curator)

Source Expert Review Red was added to ITPR1. Rating Changed from Amber List (moderate evidence) to Red List (low evidence)

7 Jan 2019, Gel status: 2

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: itpr1 has been classified as Amber List (Moderate Evidence).

8 Nov 2018, Gel status: 2

Added Tag

Rebecca Foulger (Genomics England curator)

Tag watchlist tag was added to gene: ITPR1.

8 Nov 2018, Gel status: 2

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes Gillespie Syndrome for gene: ITPR1

8 Nov 2018, Gel status: 2

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes Gillespie Syndrome for gene: ITPR1

8 Nov 2018, Gel status: 2

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE for gene: ITPR1

8 Nov 2018, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: ITPR1 was added gene: ITPR1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: ITPR1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: ITPR1 were set to SPINOCEREBELLAR ATAXIA TYPE15