Paediatric motor neuronopathies
Gene: TRPV4EnsemblGeneIds (GRCh38): ENSG00000111199
EnsemblGeneIds (GRCh37): ENSG00000111199
OMIM: 605427, Gene2Phenotype
TRPV4 is in 13 panels
3 reviews
Pinki Munot (Consultant )
several independent families reportedCreated: 2 Mar 2017, 4:35 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
scapuloperoneal spinal muscular atrophy; congenital SMA; vocal cord palsy; skeletal dysplasia; arthrogryposis; facial asymmetry; CMT2C
Publications
Arianna Tucci (Genomics England Curator)
Comment when marking as ready: Marked as green as enough evidence that is associated to the relevant phenotypeCreated: 7 Mar 2017, 1:44 p.m.
can present as congenital distal spinal muscular atrophy.Created: 31 Jan 2017, 3:54 p.m.
Alice Gardham (Genomics England)
Mutations only identified in two families with distal SMA phenotypeCreated: 26 Jan 2017, 11:54 a.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Expert
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Distal Congenital Nonprogressive Spinal Muscular Atrophy
- Brachyolmia type 3, OMIM:113500
- OMIM
- 605427
- Clinvar variants
- Variants in TRPV4
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Kleine-Levin syndrome
- Hereditary neuropathy
- Paediatric motor neuronopathies
- Limb disorders
- DDG2P
- Arthrogryposis
- Monogenic hearing loss
- Intellectual disability
- Fetal anomalies
- Paroxysmal central nervous system disorders
- Hereditary neuropathy or pain disorder
- Skeletal dysplasia
- Osteogenesis imperfecta
History Filter Activity
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: TRPV4 were changed from Distal Congenital Nonprogressive Spinal Muscular Atrophy; Brachyolmia type 3, 113500 to Distal Congenital Nonprogressive Spinal Muscular Atrophy; Brachyolmia type 3, OMIM:113500
panel promoted to version 1
Arianna Tucci (Genomics England Curator)Gene panel promoted to v1 on 7 March 2017 following external review and internal curation
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Set publications
Arianna Tucci (Genomics England Curator)Publications for TRPV4 were set to 20037588, 20037586, 20037587
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
Added New Source
Eik Haraldsdottir (Genomics England)TRPV4 was added to Paediatric motor neuronopathiespanel. Sources: Expert
Added New Source
Antonio Rueda (GEL)TRPV4 was added to Paediatric motor neuronopathiespanel. Sources: Radboud University Medical Center, Nijmegen
Added New Source
Antonio Rueda (GEL)TRPV4 was added to Paediatric motor neuronopathiespanel. Sources: Illumina TruGenome Clinical Sequencing Services