TRPV4

transient receptor potential cation channel subfamily V member 4
OMIM: 605427
PanelMode of inheritanceDetails
7 panels
R-numbers: R83
Signed-off version 3.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Spinal muscular atrophy, distal, congenital nonprogressive 600175, Metatropic dysplasia 156530
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
METATROPIC DYSPLASIA 156530, SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE 184252
R-numbers: R21
Signed-off version 1.92
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
METATROPIC DYSPLASIA, SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE
R-numbers: R78
Signed-off version 1.36
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Hereditary motor and sensory neuropathy, type IIc, 606071
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Digital arthropathy-brachydactyly, familial 606835
Component of the following Super Panels:
  • - Hypotonic infant
  • - Neuromuscular disorders
Signed-off version 1.30
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Distal Congenital Nonprogressive Spinal Muscular Atrophy, Brachyolmia type 3, 113500
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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