GMS Musculoskeletal specialist test group Skeletal dysplasia
Gene: TRPV4
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
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