TRPV4

transient receptor potential cation channel subfamily V member 4
OMIM: 605427, Gene2Phenotype

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Red TRPV4 in Motor Neurone Disease Level 2: Neurology and neurodevelopmental disorders Version 1.24 Component of the following Super Panels: Neurodegenerative disease - adult onset Neuromuscular Superpanel Progressive Neurological Conditions	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Expert list Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Spinal muscular atrophy, distal, congenital nonprogressive, 600175
Green TRPV4 in Skeletal Dysplasia_Fetal Level 2: Skeletal disorders Version 0.223	review	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Expert Review Green Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
Green TRPV4 in Arthrogryposis Level 2: Neurology and neurodevelopmental disorders Version 0.411 Component of the following Super Panels: Neuromuscular Superpanel	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green TRPV4 in Mendeliome Version 1.1902	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hereditary motor and sensory neuropathy, type IIc, MIM# 606071 Neuronopathy, distal hereditary motor, type VIII, MIM# 600175
Green TRPV4 in Deafness_IsolatedAndComplex Level 2: Hearing and ear disorders Version 1.194	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Literature Phenotypes Auditory neuropathy spectrum disorder Peripheral neuropathy Hearing loss
Green TRPV4 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.285	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Digital arthropathy-brachydactyly, familial 606835 Parastremmatic dwarfism 168400 Scapuloperoneal spinal muscular atrophy 181405 SED, Maroteaux type 184095 Brachyolmia type 3 113500 Hereditary motor and sensory neuropathy, type IIc 606071 Spinal muscular atrophy, distal, congenital nonprogressive 600175 Metatropic dysplasia 156530 Spondylometaphyseal dysplasia, Kozlowski type 184252
Green TRPV4 in Hereditary Neuropathy_CMT - isolated Level 2: Neurology and neurodevelopmental disorders Version 1.48 Component of the following Super Panels: Hereditary Neuropathy_CMT_IsolatedAndComplex Neuromuscular Superpanel Progressive Neurological Conditions	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes HMSN, dHMN/dSMA Hereditary motor and sensory neuropathy, type IIc, MIM# 606071 Neuronopathy, distal hereditary motor, type VIII, MIM# 600175
Amber TRPV4 in Auditory Neuropathy Level 2: Neurology and neurodevelopmental disorders Version 1.1	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Auditory neuropathy spectrum disorder Peripheral neuropathy Hearing loss
Green TRPV4 in Hand and foot malformations Level 2: Dysmorphic and congenital abnormality syndromes Version 0.74 Component of the following Super Panels: Limb and Digital Malformations SuperPanel	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Expert Review Green Victorian Clinical Genetics Services Expert Review Green Phenotypes Parastremmatic dwarfism 168400 Metatropic dysplasia 156530 Spinal muscular atrophy, distal, congenital nonprogressive 600175 Scapuloperoneal spinal muscular atrophy 181405 SED, Maroteaux type 184095 Spondylometaphyseal dysplasia, Kozlowski type 184252 Hereditary motor and sensory neuropathy, type IIc 606071 Brachyolmia type 3 113500 Digital arthropathy-brachydactyly, familial 606835
Green TRPV4 in Fetal anomalies Version 1.255	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Brachyolmia type 3, MIM# 113500 Metatropic dysplasia, MIM# 156530 SED, Maroteaux type, MIM# 184095 Spondylometaphyseal dysplasia, Kozlowski type, MIM# 184252