Genomics England
GMS Panels
Panels
Genes and Entities

TRPV4

transient receptor potential cation channel subfamily V member 4
OMIM: 605427
PanelMode of inheritanceDetails
7 panels
Green
in Arthrogryposis
R-numbers: R83
Signed-off version 7.7
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 4.15
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
METATROPIC DYSPLASIA 156530, SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE 184252
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 4.195
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
METATROPIC DYSPLASIA, SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE
Green
in Hereditary neuropathy or pain disorder
R-numbers: R78
Signed-off version 5.16
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Hereditary motor and sensory neuropathy, type IIc, 606071
Green
in Limb disorders
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 6.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Digital arthropathy-brachydactyly, familial 606835
Green
in Paediatric motor neuronopathies
Component of the following Super Panels:
  • - Hypotonic infant
  • - Other rare neuromuscular disorders
Signed-off version 3.8
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Distal Congenital Nonprogressive Spinal Muscular Atrophy, Brachyolmia type 3, OMIM:113500
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 6.16
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