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Severe Paediatric Disorders

Gene: TRPV4

Green List (high evidence)

TRPV4 (transient receptor potential cation channel subfamily V member 4)
EnsemblGeneIds (GRCh38): ENSG00000111199
EnsemblGeneIds (GRCh37): ENSG00000111199
OMIM: 605427, Gene2Phenotype
TRPV4 is in 14 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: TRPV4; Recommended initial gene rating: Green List (high evidence); Phenotypes: ?Avascular necrosis of femoral head, primary, 2, 617383 (3) | Brachyolmia type 3, 113500 (3) | Digital arthropathy-brachydactyly, familial, 606835 (3) | Hereditary motor and sensory neuropathy, type IIc, 606071 (3) | Metatropic dysplasia, 156530 (3) | Parastremmatic dwarfism, 168400 (3) | SED, Maroteaux type, 184095 (3) | Scapuloperoneal spinal muscular atrophy, 181405 (3) | [Sodium serum level QTL 1], 613508 (3) | Spinal muscular atrophy, distal, congenital nonprogressive, 600175 (3) | Spondylometaphyseal dysplasia, Kozlowski type, 184252 (3); Mode of inheritance: Autosomal dominant | Autosomal dominant | Autosomal dominant | Autosomal dominant | Autosomal dominant | Autosomal dominant | Autosomal dominant | Autosomal dominant | ND | Autosomal dominant | Autosomal dominant
Created: 20 Feb 2020, 5:27 p.m. | Last Modified: 20 Feb 2020, 5:27 p.m.
Panel Version: 0.12

Details

Mode of Inheritance
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
OMIM
605427
Clinvar variants
Variants in TRPV4
Penetrance
None
Publications