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  3. ITPR1
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Cerebral Palsy

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

2 reviews

Clare van Eyk (University of Adelaide)

Green List (high evidence)

3 additional individuals with mono-allelic LP variants (2 missense, 1 frameshift insertion) reported in large-scale exome sequencing study (PMID: 38693247).
Created: 28 May 2024, 3:23 a.m. | Last Modified: 28 May 2024, 3:23 a.m.
Panel Version: 1.194

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Spinocerebellar ataxia 29, congenital nonprogressive MIM#117360

Publications

Created: 28 May 2024, 3:23 a.m.
Last Modified: 28 May 2024, 3:23 a.m.
Panel version: 1.194

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Variants in this gene reported in individuals diagnosed with ataxic CP.
Sources: Expert list
Created: 25 Sep 2021, 4:25 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Spinocerebellar ataxia 29, congenital nonprogressive MIM#117360

Publications

Created: 25 Sep 2021, 4:25 a.m.

Panel version: 0.149

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Spinocerebellar ataxia 29, congenital nonprogressive MIM#117360
OMIM
147265
Clinvar variants
Variants in ITPR1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 May 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ITPR1 were set to 28826917; 25981959; 22986007

25 Sep 2021, 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).

25 Sep 2021, 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).

25 Sep 2021, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ITPR1 was added gene: ITPR1 was added to Cerebral Palsy. Sources: Expert list Mode of inheritance for gene: ITPR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ITPR1 were set to 28826917; 25981959; 22986007 Phenotypes for gene: ITPR1 were set to Spinocerebellar ataxia 29, congenital nonprogressive MIM#117360 Review for gene: ITPR1 was set to GREEN