TRPV4

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

15 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 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 Other rare neuromuscular disorders Version 19.202 Latest signed off version: v19.1 (22 Mar 2023)	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 4.21 Latest signed off version: v4.0 (22 Mar 2023) 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 3.10 Latest signed off version: v3.0 (22 Mar 2023)	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 5.31 Latest signed off version: v5.0 (22 Mar 2023)	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 4.63 Latest signed off version: v4.0 (22 Mar 2023) 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 3.164 Latest signed off version: v3.0 (22 Mar 2023)	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 4.5 Latest signed off version: v4.0 (22 Mar 2023)	review	Not set	Sources Expert Review Removed Emory Genetics Laboratory Phenotypes Disproportionate Short Stature Tags curated_removed
Green TRPV4 in Paediatric motor neuronopathies Level 3: Motor and Sensory Disorders of the PNS Level 2: Neurology and neurodevelopmental disorders Version 3.6 Latest signed off version: v3.3 (22 Mar 2023) Component of the following Super Panels: Hypotonic infant Other rare 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, OMIM:113500
Green TRPV4 in DDG2P Version 3.88 Latest signed off version: v3.1 (22 Mar 2023) 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 1.477	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 Monogenic hearing loss Level 3: Non-syndromic hearing loss Level 2: Hearing and ear disorders Version 4.38 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	Not set	Sources Expert
Red TRPV4 in Intellectual disability - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.544 Latest signed off version: v5.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	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 or pain disorder Version 3.94 Latest signed off version: v3.24 (15 May 2023)	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 1.184	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