TRPV4

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

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Green TRPV4 in Skeletal Dysplasia_Fetal Level 2: Skeletal disorders Version 1.0	1 review	Unknown	Sources Melbourne Genomics Health Alliance Perinatal Autopsy Flagship Expert Review Green Victorian Clinical Genetics Services Expert Review Green
Green TRPV4 in Arthrogryposis Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes Neuronopathy, distal hereditary motor, autosomal dominant 8, MIM# 600175
Green TRPV4 in Deafness_IsolatedAndComplex Level 2: Hearing and ear disorders Version 2.0	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Literature Expert Review Green Phenotypes Auditory neuropathy spectrum disorder Charcot-Marie-Tooth disease axonal type 2C, MONDO:0011633 Hearing loss
Green TRPV4 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 1.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services NHS GMS Expert Review Green Expert Review Green 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 2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Royal Melbourne Hospital Expert Review Green 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 2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Expert Review Amber Phenotypes Auditory neuropathy spectrum disorder Peripheral neuropathy Hearing loss
Green TRPV4 in Hand and foot malformations Level 2: Dysmorphic and congenital abnormality syndromes Version 1.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Expert Review Green Expert Review Green Expert list 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