Limb disordersGene: TRPV4
Genomics England clinical team notes - Agree with green rating. Agree this phenotype only (also presents as short limb dwarfism).
Created: 9 Sep 2018, 5:59 p.m.
Comment on list classification: Three cases/families reported in PMID: 21964574 for digital arthropathy-brachydactyly. This gene is green on the Unexplained skeletal dysplasia gene panel (version 1.99).
Created: 9 Apr 2018, 4:05 p.m.
Ellen McDonagh: Comment on list classification
This gene has been classified as Green List (High Evidence).
Publications for TRPV4 were set to 21964574
TRPV4 was added to Limb disorders panel. Sources: Other
TRPV4 was created by Ellen McDonagh