Limb disorders
Gene: DVL1Comment on mode of pathogenicity: PMID:25817016 suggests known variants causing Robinow syndrome are gain of functionCreated: 4 Dec 2018, 12:05 p.m.
Comment when marking as ready: Associated with phenotype in OMIM and G2P. Numerous variants reportedCreated: 28 Jul 2016, 10:41 a.m.
Tier 1Created: 17 Jun 2016, 8:03 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Robinow syndrome, autosomal dominant 2 616331
Variants in this GENE are reported as part of current diagnostic practice
Ana Beleza: Tier 1
Publications for gene: DVL1 were set to 25817016
Publications for gene: DVL1 were set to
Mode of pathogenicity for gene: DVL1 was changed from None to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Phenotypes for DVL1 were set to Robinow syndrome, autosomal dominant 2, 616331
Radboud University Medical Center, Nijmegen was added to DVL1. Panel: Limb disorders UKGTN was added to DVL1. Panel: Limb disorders Expert Review Green was added to DVL1. Panel: Limb disorders Expert list was added to DVL1. Panel: Limb disorders Model of inheritance for gene DVL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
London South East RGC GSTT was added to DVL1. Panel: Limb disorders
DVL1 was added to Limb disorders panel. Sources: Viapath
DVL1 was created by Ellen McDonagh