JPH3

junctophilin 3
OMIM: 605268, Gene2Phenotype

11 panels

Panel Reviews Mode of inheritance Details
11 panels
Red JPH3 in Parkinson Disease and Complex Parkinsonism

Level 3: Neurodegenerative disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.121

review Other
Sources
  • Expert list
Phenotypes
  • Huntington disease-like 2, OMIM:606438
Tags
  • nucleotide-repeat-expansion
  • currently-ngs-unreportable
Red JPH3 in Early onset dementia (encompassing fronto-temporal dementia and prion disease)

Level 3: Neurodegenerative disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.83

review Other
Sources
  • Expert Review
Phenotypes
  • Huntington disease-like 2, OMIM:606438
Tags
  • currently-ngs-unreportable
  • nucleotide-repeat-expansion
Red JPH3 in Adult onset neurodegenerative disorder


Version 4.47
Latest signed off version: v4.34 (31 Jul 2023)

review Other
Sources
  • NHS GMS
  • Yorkshire and North East GLH
  • Expert Review Red
Phenotypes
  • Huntington disease-like 2, OMIM:606438
Tags
  • nucleotide-repeat-expansion
  • currently-ngs-unreportable
Red JPH3 in Intellectual disability - microarray and sequencing

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.532
Latest signed off version: v5.0 (22 Mar 2023)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • Neurodevelopmental disorder, MONDO:0700092
    • Paroxysmal dystonia, MONDO:0016058
    Red JPH3 in Adult onset dystonia, chorea or related movement disorder


    Version 3.18
    Latest signed off version: v3.12 (31 Jul 2023)

    review Other
    Sources
    • NHS GMS
    • South West GLH
    • Expert Review Red
    Phenotypes
    • Huntington disease-like 2, OMIM:606438
    Green JPH3 in Severe Paediatric Disorders


    Version 1.184

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Huntington disease-like 2, OMIM:606438
    Green JPH3_CTG STR in Parkinson Disease and Complex Parkinsonism

    Level 3: Neurodegenerative disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.121

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • NHS GMS
    • Expert list
    Phenotypes
    • Huntington disease-like 2, OMIM:606438
    Tags
    • STR
    Green JPH3_CTG STR in Early onset dementia (encompassing fronto-temporal dementia and prion disease)

    Level 3: Neurodegenerative disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.83

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • NHS GMS
    • Expert list
    Phenotypes
    • Huntington disease-like 2, OMIM:606438
    Tags
    • STR
    Green JPH3_CTG STR in Early onset dystonia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.147

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • NHS GMS
    • Expert Review
    Phenotypes
    • Huntington disease-like 2, OMIM:606438
    Tags
    • STR
    Green JPH3_CTG STR in Adult onset neurodegenerative disorder


    Version 4.47
    Latest signed off version: v4.34 (31 Jul 2023)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Yorkshire and North East GLH
    • NHS GMS
    • London North GLH
    • Expert list
    Phenotypes
    • Huntington disease-like 2, OMIM:606438
    Tags
    • STR
    Green JPH3_CTG STR in Adult onset dystonia, chorea or related movement disorder


    Version 3.18
    Latest signed off version: v3.12 (31 Jul 2023)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • London North GLH
    • Expert Review Green
    • Expert list
    Phenotypes
    • Huntington disease-like 2, OMIM:606438
    Tags
    • STR