GMS Musculoskeletal specialist test group Skeletal dysplasia
Gene: TRPV4EnsemblGeneIds (GRCh38): ENSG00000111199
EnsemblGeneIds (GRCh37): ENSG00000111199
OMIM: 605427, Gene2Phenotype
TRPV4 is in 13 panels
1 review
Tracy Lester (Genetics laboratory, Oxford UK)
TRPV4 group of SD, green - many variant with many phenotypes; Review on behalf of Tracy Lester/Michael OldridgeCreated: 6 Mar 2019, 11:52 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Brachyolmia type 3 113500; Digital arthropathy-brachydactyly, familial 606835; Hereditary motor and sensory neuropathy, type IIc 606071; Metatropic dysplasia 156530; Parastremmatic dwarfism 168400; Scapuloperoneal spinal muscular atrophy 181405; SED, Maroteaux type 184095; Spinal muscular atrophy, distal, congenital nonprogressive 600175; Spondylometaphyseal dysplasia, Kozlowski type 184252
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- NHS GMS
- 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
- OMIM
- 605427
- Clinvar variants
- Variants in TRPV4
- Penetrance
- None
- Panels with this gene
-
- Monogenic hearing loss
- Kleine-Levin syndrome
- Osteogenesis imperfecta
- Intellectual disability
- Hereditary neuropathy or pain disorder
- Paediatric motor neuronopathies
- Limb disorders
- Fetal anomalies
- DDG2P
- Skeletal dysplasia
- Hereditary neuropathy
- Arthrogryposis
- Paroxysmal central nervous system disorders
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: TRPV4 was added gene: TRPV4 was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: TRPV4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TRPV4 were set to 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