Paediatric motor neuronopathies
Gene: TRPV4
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
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.
Mutations only identified in two families with distal SMA phenotypeCreated: 26 Jan 2017, 11:54 a.m.
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
Gene panel promoted to v1 on 7 March 2017 following external review and internal curation
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
This gene has been classified as Red List (Low Evidence).
Publications for TRPV4 were set to 20037588, 20037586, 20037587
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
TRPV4 was added to Paediatric motor neuronopathiespanel. Sources: Expert
TRPV4 was added to Paediatric motor neuronopathiespanel. Sources: Radboud University Medical Center, Nijmegen
TRPV4 was added to Paediatric motor neuronopathiespanel. Sources: Illumina TruGenome Clinical Sequencing Services