Renal ciliopathiesGene: DDX59
Comment on publications: Adding publications from Zornitza Stark
Created: 1 Nov 2018, 5:03 p.m.
Comment on list classification: 5 families/cases now reported with an orofaciodigital syndrome phenotype and several variants so rating this gene green.
Created: 1 Nov 2018, 5:02 p.m.
Mutations only identified in two families. Probable DD on G2P. Offered on GOS ciliopathy panel
Created: 19 Jan 2017, 4:24 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Orofaciodigital syndrome V 174300
gene: DDX59 was added gene: DDX59 was added to Renal ciliopathies. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green Mode of inheritance for gene: DDX59 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DDX59 were set to 29127725; 23972372; 28711741 Phenotypes for gene: DDX59 were set to Orofaciodigital syndrome V, 174300