Severe Paediatric Disorders
Gene: TRPV4
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 dominantCreated: 20 Feb 2020, 5:27 p.m. | Last Modified: 20 Feb 2020, 5:27 p.m.
Panel Version: 0.12
Publications for gene TRPV4 were updated from to 30847515
Added phenotypes Digital arthropathy-brachydactyly, familial, 606835; Metatropic dysplasia, 156530; [Sodium serum level QTL 1], 613508; Brachyolmia type 3, 113500; Hereditary motor and sensory neuropathy, type IIc, 606071; Scapuloperoneal spinal muscular atrophy, 181405; Spinal muscular atrophy, distal, congenital nonprogressive, 600175; Spondylometaphyseal dysplasia, Kozlowski type, 184252; SED, Maroteaux type, 184095; ?Avascular necrosis of femoral head, primary, 2, 617383; Parastremmatic dwarfism, 168400 for gene: TRPV4
Added phenotypes Digital arthropathy-brachydactyly, familial, 606835; Metatropic dysplasia, 156530; [Sodium serum level QTL 1], 613508; Brachyolmia type 3, 113500; Hereditary motor and sensory neuropathy, type IIc, 606071; Scapuloperoneal spinal muscular atrophy, 181405; Spinal muscular atrophy, distal, congenital nonprogressive, 600175; Spondylometaphyseal dysplasia, Kozlowski type, 184252; SED, Maroteaux type, 184095; ?Avascular necrosis of femoral head, primary, 2, 617383; Parastremmatic dwarfism, 168400 for gene: TRPV4
Added phenotypes Digital arthropathy-brachydactyly, familial, 606835; Metatropic dysplasia, 156530; [Sodium serum level QTL 1], 613508; Brachyolmia type 3, 113500; Hereditary motor and sensory neuropathy, type IIc, 606071; Scapuloperoneal spinal muscular atrophy, 181405; Spinal muscular atrophy, distal, congenital nonprogressive, 600175; Spondylometaphyseal dysplasia, Kozlowski type, 184252; SED, Maroteaux type, 184095; ?Avascular necrosis of femoral head, primary, 2, 617383; Parastremmatic dwarfism, 168400 for gene: TRPV4
Added phenotypes ?Avascular necrosis of femoral head, primary, 2, 617383; Digital arthropathy-brachydactyly, familial, 606835; Brachyolmia type 3, 113500; Spinal muscular atrophy, distal, congenital nonprogressive, 600175; SED, Maroteaux type, 184095; Scapuloperoneal spinal muscular atrophy, 181405; Parastremmatic dwarfism, 168400; Hereditary motor and sensory neuropathy, type IIc, 606071; [Sodium serum level QTL 1], 613508; Metatropic dysplasia, 156530; Spondylometaphyseal dysplasia, Kozlowski type, 184252 for gene: TRPV4
Mode of inheritance for gene TRPV4 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Digital arthropathy-brachydactyly, familial, 606835; Metatropic dysplasia, 156530; [Sodium serum level QTL 1], 613508; Brachyolmia type 3, 113500; Hereditary motor and sensory neuropathy, type IIc, 606071; Scapuloperoneal spinal muscular atrophy, 181405; Spinal muscular atrophy, distal, congenital nonprogressive, 600175; Spondylometaphyseal dysplasia, Kozlowski type, 184252; SED, Maroteaux type, 184095; ?Avascular necrosis of femoral head, primary, 2, 617383; Parastremmatic dwarfism, 168400 for gene: TRPV4
Source Next Generation Children Project was added to TRPV4.
Source Expert Review Green was added to TRPV4. Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: TRPV4 was added gene: TRPV4 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: TRPV4 was set to