TRPV4

transient receptor potential cation channel subfamily V member 4
OMIM: 605427, Gene2Phenotype

15 panels

Panel Reviews Mode of inheritance Details
15 panels

Red TRPV4 in Kleine-Levin syndrome

Level 3: Sleep disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.7

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert Review
Phenotypes
  • Monozygotic twins concordant for Kleine-Levin Syndrome
  • recurrent hypersomnia
  • behavioral disturbances
  • compulsive eating and drinking (or decreased eating)
  • sexual disinhibition
  • irritability
  • confusion
  • feeling of unreality
  • altered tactile, gustative, and olphatory perceptions
  • apathi
  • impaired speech
  • impaired memory
  • depression and anxiety
  • transient symptoms at the end, amnesia, moderate elation and insomnia
  • normality between episodes

Green TRPV4 in Neuromuscular disorders


Version 5.92
Signed off v.5.43 on 4 Mar 2020

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Distal Congenital Nonprogressive Spinal Muscular Atrophy
  • Brachyolmia type 3, 113500

Green TRPV4 in Limb disorders


Version 2.32
Signed off v.2.2 on 13 Feb 2020

Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Other
    Phenotypes
    • Digital arthropathy-brachydactyly, familial 606835

    Red TRPV4 in Paroxysmal central nervous system disorders


    Version 1.10
    Signed off v.1.2 on 27 Feb 2020

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • NHS GMS
    • London North GLH
    • Wessex and West Midlands GLH
    Phenotypes
    • Hereditary motor and sensory neuropathy, type IIc, 606071
    • sexual disinhibition
    • confusion
    • apathi
    • impaired memory
    • impaired speech
    • compulsive eating and drinking (or decreased eating)
    • irritability
    • recurrent hypersomnia
    • behavioral disturbances
    • transient symptoms at the end, amnesia, moderate elation and insomnia
    • Monozygotic twins concordant for Kleine-Levin Syndrome
    • altered tactile, gustative, and olphatory perceptions
    • normality between episodes
    • feeling of unreality
    • depression and anxiety

    Green TRPV4 in Arthrogryposis

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.52
    Signed off v.3.2 on 13 Feb 2020

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Illumina TruGenome Clinical Sequencing Services
    • UKGTN
    • Expert list
    Phenotypes
    • Spinal muscular atrophy, distal, congenital nonprogressive 600175
    • Metatropic dysplasia 156530

    Green TRPV4 in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 2.76
    Signed off v.2.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Brachyolmia type 3 113500
    • Hereditary motor and sensory neuropathy, type IIc 606071
    • Digital arthropathy-brachydactyly, familial 606835
    • SED, Maroteaux type 184095
    • Parastremmatic dwarfism 168400
    • Metatropic dysplasia 156530
    • Scapuloperoneal spinal muscular atrophy 181405
    • Spinal muscular atrophy, distal, congenital nonprogressive 600175
    • Spondylometaphyseal dysplasia, Kozlowski type 184252

    Green TRPV4 in Fetal anomalies


    Version 1.185
    Signed off v.1.92 on 21 Aug 2020

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • METATROPIC DYSPLASIA
    • SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE

    No list TRPV4 in Osteogenesis imperfecta

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 2.10
    Signed off v.2.2 on 13 Feb 2020

    review Not set
    Sources
    • Expert Review Removed
    • Emory Genetics Laboratory
    Phenotypes
    • Disproportionate Short Stature

    Green TRPV4 in Paediatric motor neuronopathies

    Level 3: Motor and Sensory Disorders of the PNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.35
    Signed off v.1.30 on 4 Mar 2020

    Component of the following Super Panels:

  • Hypotonic infant
  • Neuromuscular disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Expert
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    Phenotypes
    • Distal Congenital Nonprogressive Spinal Muscular Atrophy
    • Brachyolmia type 3, 113500

    Green TRPV4 in DDG2P


    Version 2.18
    Signed off v.2.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • METATROPIC DYSPLASIA 156530
    • SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE 184252

    Green TRPV4 in Hereditary neuropathy

    Level 3: Motor and Sensory Disorders of the PNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.383

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • South West GLH
    • NHS GMS
    • London North GLH
    • Expert Review Green
    • Emory Genetics Laboratory
    • UKGTN
    • Expert list
    • Illumina TruGenome Clinical Sequencing Services
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Hereditary motor and sensory neuropathy, type IIc, 606071

    Red TRPV4 in Hearing loss

    Level 3: Non-syndromic hearing loss
    Level 2: Hearing and ear disorders
    Version 2.146
    Signed off v.2.5 on 13 Feb 2020

    review Not set
    Sources
    • Expert

    Red TRPV4 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.740
    Signed off v.3.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Brachyolmia type 3, 113500
    • Spondylometaphyseal dysplasia, Kozlowski type, 184252
    • Metatropic dysplasia, 156530
    • Hereditary motor and sensory neuropathy, type IIc, 606071
    • Scapuloperoneal spinal
    • muscular atrophy, 181405
    • [Sodium serum level QTL 1], 613508
    • Parastremmatic dwarfism, 168400
    • SED, Maroteaux type, 184095
    • Spinal muscular atrophy, distal, congenital nonprogressive, 600175
    • Digital arthropathy-brachydactyly, familial, 606835

    Green TRPV4 in Hereditary neuropathy NOT PMP22 copy number


    Version 1.21
    Signed off v.1.2 on 27 Feb 2020

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Radboud University Medical Center, Nijmegen
    • South West GLH
    • Expert Review Green
    • UKGTN
    • Emory Genetics Laboratory
    • Expert list
    • London North GLH
    • Illumina TruGenome Clinical Sequencing Services
    • NHS GMS
    • South West GLH
    • NHS GMS
    • London North GLH
    Phenotypes
    • Hereditary motor and sensory neuropathy, type IIc, 606071

    Green TRPV4 in Severe Paediatric Disorders


    Version 1.43

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Digital arthropathy-brachydactyly, familial, 606835
    • Metatropic dysplasia, 156530
    • Spinal muscular atrophy, distal, congenital nonprogressive, 600175
    • Brachyolmia type 3, 113500
    • Hereditary motor and sensory neuropathy, type IIc, 606071
    • Scapuloperoneal spinal muscular atrophy, 181405
    • [Sodium serum level QTL 1], 613508
    • Spondylometaphyseal dysplasia, Kozlowski type, 184252
    • SED, Maroteaux type, 184095
    • ?Avascular necrosis of femoral head, primary, 2, 617383
    • Parastremmatic dwarfism, 168400