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  3. TRPV4
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Hand and foot malformations

Gene: TRPV4

Green List (high evidence)
TRPV4 (transient receptor potential cation channel subfamily V member 4)
EnsemblGeneIds (GRCh38): ENSG00000111199
EnsemblGeneIds (GRCh37): ENSG00000111199
OMIM: 605427, Gene2Phenotype
TRPV4 is in 10 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Variants in this gene are associated with multiple skeletal and neurological phenotypes.
Created: 11 May 2021, 10:49 a.m. | Last Modified: 11 May 2021, 10:49 a.m.
Panel Version: 0.151

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Hereditary motor and sensory neuropathy, type IIc, MIM# 606071; Neuronopathy, distal hereditary motor, type VIII, MIM# 600175

Created: 11 May 2021, 10:49 a.m.
Last Modified: 11 May 2021, 10:49 a.m.
Panel version: Imported from Mendeliome panel version Imported from Hereditary Neuropathy_CMT - isolated panel version 0.151

Details

Mode of Inheritance
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
OMIM
605427
Clinvar variants
Variants in TRPV4
Penetrance
None
Panels with this gene

History Filter Activity

22 Sep 2021, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: TRPV4 was added gene: TRPV4 was added to Hand and foot malformation. Sources: Expert Review Green,Expert list Mode of inheritance for gene: TRPV4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TRPV4 were set to 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