Osteogenesis imperfecta
Gene: TRPV4
TRPV4 (transient receptor potential cation channel subfamily V member 4)
EnsemblGeneIds (GRCh38): ENSG00000111199
EnsemblGeneIds (GRCh37): ENSG00000111199
OMIM: 605427, Gene2Phenotype
TRPV4 is in 14 panels
EnsemblGeneIds (GRCh38): ENSG00000111199
EnsemblGeneIds (GRCh37): ENSG00000111199
OMIM: 605427, Gene2Phenotype
TRPV4 is in 14 panels
2 reviews
Rebecca Pollitt (Sheffield Diagnostic Genetics Service ; University of Sheffield)
Meena Balasubramanian (Sheffield Children's NHS Foundation Trust)
Remove from panelCreated: 27 Nov 2015, 3:05 p.m.
Details
- Sources
-
- Expert Review Removed
- Emory Genetics Laboratory
- Phenotypes
-
- Disproportionate Short Stature
- Tags
- OMIM
- 605427
- Clinvar variants
- Variants in TRPV4
- Penetrance
- Complete
- Panels with this gene
-
- Hereditary neuropathy
- Paroxysmal central nervous system disorders
- Fetal anomalies
- Skeletal dysplasia
- Limb disorders
- Monogenic hearing loss
- Arthrogryposis
- Kleine-Levin syndrome
- Paediatric motor neuronopathies
- Osteogenesis imperfecta
- Adult onset neurodegenerative disorder
- DDG2P
- Hereditary neuropathy or pain disorder
- Intellectual disability
History Filter Activity
26 Feb 2021, Gel status: 0
Added Tag
Arina Puzriakova (Genomics England Curator)Tag curated_removed tag was added to gene: TRPV4.
16 May 2016, Gel status: 0
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been removed from the panel.
20 Jul 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)TRPV4 was added to Osteogenesis Imperfecta panel. Sources: Emory Genetics Laboratory