Ophthalmological ciliopathies
Gene: DDX59Comment on publications: Adding publications from Zornitza StarkCreated: 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.
Please note 3 additional families reported in the literature.Created: 4 Aug 2018, 4:22 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
OFD
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mutations only identified in two families. Probable DD on G2P. Offered on GOS ciliopathy panelCreated: 19 Jan 2017, 4:24 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Orofaciodigital syndrome V 174300
Publications
gene: DDX59 was added gene: DDX59 was added to Ophthalmological 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