ITPR1

inositol 1,4,5-trisphosphate receptor type 1
OMIM: 147265, Gene2Phenotype

15 panels

Panel Reviews Mode of inheritance Details
15 panels

Green ITPR1 in Ataxia and cerebellar anomalies - narrow panel


Version 2.300
Latest signed off version: v2.23 (8 Oct 2020)

Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset
  • review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Spinocerebellar ataxia 29
    • Gillespie syndrome 206700
    • Spinocerebellar ataxia 15
    • Spinocerebellar ataxia 29, congenital nonprogressive

    Green ITPR1 in Hereditary ataxia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.303

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • UKGTN
    • Illumina TruGenome Clinical Sequencing Services
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Spinocerebellar ataxia 29
    • Spinocerebellar ataxia 15

    Green ITPR1 in Aniridia


    Version 2.15
    Latest signed off version: v2.5 (15 Oct 2020)

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Wessex and West Midlands GLH
    Phenotypes
    • Gillespie syndrome, OMIM:206700

    Red ITPR1 in Autism


    Version 0.22

    review Not set
    Sources
    • Expert Review Red
    • SFARI

    Green ITPR1 in Cerebellar hypoplasia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.63

    review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Emory Genetics Laboratory
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    • UKGTN
    • Other
    • Eligibility statement prior genetic testing
    Phenotypes
    • Spinocerebellar ataxia 15
    • Spinocerebellar ataxia 29, congenital nonprogressive
    • Gillespie syndrome 206700

    Red ITPR1 in Neurodegenerative disorders - adult onset


    Version 2.275
    Latest signed off version: v2.178 (5 Aug 2021)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • Wessex and West Midlands GLH
    • Yorkshire and North East GLH
    • NHS GMS
    • London North GLH
    Phenotypes
    • Spinocerebellar ataxia 29
    • Spinocerebellar ataxia 15

    Red ITPR1 in Fetal anomalies


    Version 1.900
    Latest signed off version: v1.92 (21 Aug 2020)

    review 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

    Green ITPR1 in DDG2P


    Version 2.76
    Latest signed off version: v2.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • SPINOCEREBELLAR ATAXIA TYPE15 606658
    • SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE 117360
    • Gillespie Syndrome 206700
    Tags
    • watchlist

    Red ITPR1 in Hereditary neuropathy

    Level 3: Motor and Sensory Disorders of the PNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.454

    review Not set
    Sources
    • NHS GMS
    • South West GLH
    • Emory Genetics Laboratory
    Phenotypes
    • Hereditary Neuropathies

    Green ITPR1 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1659
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Gillespie syndrome 206700

    Green ITPR1 in Hereditary ataxia - adult onset


    Version 2.158
    Latest signed off version: v2.13 (6 Oct 2020)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • London North GLH
    • NHS GMS
    • Wessex and West Midlands GLH
    • Expert Review Green
    • Hereditary ataxia v1.148
    Phenotypes
    • Spinocerebellar ataxia 15, 606658
    • Gillespie syndrome, 206700
    • Spinocerebellar ataxia 15
    • Spinocerebellar ataxia 29
    • Spinocerebellar ataxia 29, 117360

    Red ITPR1 in Structural eye disease


    Version 1.132
    Latest signed off version: v1.3 (4 Mar 2020)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    Phenotypes
    • Gillespie syndrome, 206700

    Red ITPR1 in Hereditary neuropathy NOT PMP22 copy number


    Version 1.103
    Latest signed off version: v1.36 (5 Aug 2021)

    review Not set
    Sources
    • NHS GMS
    • South West GLH
    • Emory Genetics Laboratory
    • NHS GMS
    • South West GLH
    Phenotypes
    • Hereditary Neuropathies

    Amber ITPR1 in Childhood onset dystonia or chorea or related movement disorder


    Version 1.241
    Latest signed off version: v1.137 (5 Aug 2021)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • London North GLH
    • Expert Review Amber
    Phenotypes
    • Spinocerebellar ataxia 15, 606658

    Green ITPR1 in Severe Paediatric Disorders


    Version 1.127

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Spinocerebellar ataxia 15, 606658
    • Gillespie syndrome, 206700
    • Spinocerebellar ataxia 29, congenital nonprogressive, 117360