PanelApp (test)
  1. Genes and Genomic Entities
  2. ITPR1:Ensemblv90

ITPR1:Ensemblv90

inositol 1,4,5-trisphosphate receptor type 1
OMIM: 147265, ClinGen, DECIPHER

20 panels

Panel Reviews Mode of inheritance Details
20 panels

Green ITPR1 in Eye Anterior Segment Abnormalities


Level 2: Ophthalmological disorders
Version 1.17

1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Gillespie syndrome, MIM# 206700

Green ITPR1 in Cerebellar and Pontocerebellar Hypoplasia


Level 2: Neurology and neurodevelopmental disorders
Version 1.92

1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Gillespie syndrome, MIM# 206700

Green ITPR1 in Cerebral Palsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.405

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Spinocerebellar ataxia 29, congenital nonprogressive MIM#117360

Green ITPR1 in Mendeliome


Version 1.3802

2 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Gillespie syndrome, MIM# 206700
  • Spinocerebellar ataxia 15 MIM#606658
  • Spinocerebellar ataxia 29, congenital nonprogressive MIM#117360

Green ITPR1 in Regression


Level 2: Neurology and neurodevelopmental disorders
Version 0.601

0 reviews Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green ITPR1 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.508

1 review 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

Green ITPR1 in Ataxia - adult onset


Level 2: Neurology and neurodevelopmental disorders
Version 1.62

Component of the following Super Panels:

  • Neurodegenerative disease - adult onset
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  2 reviews MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Expert list
    • Royal Melbourne Hospital
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Gillespie syndrome, 206700
    • Spinocerebellar ataxia 29
    • Spinocerebellar ataxia 29, 117360
    • Spinocerebellar ataxia 15
    • Spinocerebellar ataxia 15, 606658

    Green ITPR1 in Ataxia


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.162

    Component of the following Super Panels:

  • Ataxia_Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert Review Green
    • Expert list
    • Victorian Clinical Genetics Services
    Phenotypes
    • Spinocerebellar ataxia 15 MIM#606658
    • Spinocerebellar ataxia 29, congenital nonprogressive MIM#117360

    Green ITPR1 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.111

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Gillespie syndrome, 206700 (3), Autosomal recessive

    Red ITPR1 in Fetal anomalies


    Version 1.482

    		1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Genomics England PanelApp
    Phenotypes
    • Spinocerebellar ataxia 15 MIM#606658
    • Spinocerebellar ataxia 29, congenital nonprogressive MIM#117360
    • Gillespie syndrome, MIM# 206700

    Green ITPR1 in Prepair 1000+


    Level 2: Screening
    Version 2.15

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Gillespie syndrome, MIM#206700

    Green ITPR1 in Prepair 500+


    Level 2: Screening
    Version 2.0

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Gillespie syndrome, MIM# 206700

    Green ITPR1 in Eye Anterior Segment Abnormalities


    Level 2: Ophthalmological disorders
    Version 2.0

    		1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    Phenotypes
    • Gillespie syndrome, MIM# 206700

    Green ITPR1 in Cerebellar and Pontocerebellar Hypoplasia


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.0

    		1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    Phenotypes
    • Gillespie syndrome, MIM# 206700

    Green ITPR1 in Cerebral Palsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.0

    		2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert list
    • Expert Review Green
    Phenotypes
    • Spinocerebellar ataxia 29, congenital nonprogressive MIM#117360

    Green ITPR1 in Regression


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.0

    		0 reviews Unknown
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services

    Green ITPR1 in Ataxia - adult onset


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.0

    		2 reviews MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Royal Melbourne Hospital
    • Expert list
    • Expert Review Green
    Phenotypes
    • Gillespie syndrome, 206700
    • Spinocerebellar ataxia 29
    • Spinocerebellar ataxia 29, 117360
    • Spinocerebellar ataxia 15
    • Spinocerebellar ataxia 15, 606658

    Green ITPR1 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 1.0

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Mackenzie's Mission
    • Expert Review Green
    Phenotypes
    • Gillespie syndrome, 206700 (3), Autosomal recessive

    Green ITPR1 in Prepair 1000+


    Level 2: Screening
    Version 3.0

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Mackenzie's Mission
    • Expert Review Green
    Phenotypes
    • Gillespie syndrome, MIM#206700

    Green ITPR1 in Prepair 500+


    Level 2: Screening
    Version 3.0

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Mackenzie's Mission
    • Expert Review Green
    Phenotypes
    • Gillespie syndrome, MIM# 206700