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Intellectual disability syndromic and non-syndromic

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 12 panels

1 review

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

Both classified as Definitive by ClinGen ID and Autism GCEP on 03/11/2021. Affected individuals with either condition present with mild to moderate ID and is a prominent feature in the condition.

Aniridia-cerebellar ataxia-intellectual disability syndrome - https://search.clinicalgenome.org/CCID:005166
SCA type 29 - https://search.clinicalgenome.org/CCID:005165
Created: 20 Oct 2024, 9:39 p.m. | Last Modified: 20 Oct 2024, 9:39 p.m.
Panel Version: 0.6528

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
aniridia-cerebellar ataxia-intellectual disability syndrome MONDO:0008795; spinocerebellar ataxia type 29 MONDO:0007298

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • aniridia-cerebellar ataxia-intellectual disability syndrome MONDO:0008795
  • spinocerebellar ataxia type 29 MONDO:0007298
OMIM
147265
Clinvar variants
Variants in ITPR1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

22 Oct 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: itpr1 has been classified as Green List (High Evidence).

22 Oct 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ITPR1 were changed from to aniridia-cerebellar ataxia-intellectual disability syndrome MONDO:0008795; spinocerebellar ataxia type 29 MONDO:0007298

22 Oct 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ITPR1 were set to 27108797; 27108798; 15623688; 22986007; 28488678

22 Oct 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ITPR1 were set to

22 Oct 2024, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: ITPR1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ITPR1 was added gene: ITPR1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ITPR1 was set to Unknown