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| Skeletal dysplasia v1.153 | TRPV4 | Eleanor Williams Added 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 for gene: TRPV4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.147 | TRPV4 | Tracy Lester reviewed gene: TRPV4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; 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; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.146 | TRPV4 | Eleanor Williams reviewed gene: TRPV4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.145 | TRPV4 |
Eleanor Williams Source NHS GMS was added to TRPV4. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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