Polydactyly
Gene: DDX59
Overlapping JS features including cerebellar vermis hypoplasia, cleft palate and postaxial polydactyly. 4 or 5 families reported to date and functional studies performed. PMID: 29127725; 1 family with OFD PMID: 23972372; 2 different hom variants reported in 2 families. Functional studies showed impaired ciliary signaling PMID: 28711741; Same hom variant reported in 2 apparently unrelated consang families. Cerebellar vermis hypoplasia reported in 1 patientCreated: 3 Jul 2021, 3:58 a.m. | Last Modified: 3 Jul 2021, 3:58 a.m.
Panel Version: 0.214
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Orofaciodigital syndrome V (MIM#174300)
Publications
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Gene: ddx59 has been classified as Green List (High Evidence).
Phenotypes for gene: DDX59 were changed from to Orofaciodigital syndrome V (MIM#174300)
Publications for gene: DDX59 were set to
Mode of inheritance for gene: DDX59 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
gene: DDX59 was added gene: DDX59 was added to Polydactyly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: DDX59 was set to Unknown