Limb disorders
Gene: DDX59
Comment on list classification: Adding this gene back to the panel as it is has been removed from the skeletal ciliopathies panel as the skeletal phenotype is polydactyly only.Created: 27 Nov 2019, 3:47 p.m. | Last Modified: 27 Nov 2019, 3:47 p.m.
Panel Version: 1.133
Comment on list classification: Gene made grey as it is green on the Rare multisystem ciliopathy disorders panel (v1.78) and the ciliopathy panel will be applied if a patient is suspected of having a ciliopathy, or the possibility of a ciliopathy cannot be excluded.Created: 2 Dec 2018, 10:50 p.m.
Mutations identified in 5 families. Postaxial polydactyly reported in 4.Created: 7 Nov 2018, 1:26 p.m.
Comment on list classification: > 3 families/cases with Orofaciodigital syndrome including polydactyly phenotype and a variant in this gene.Created: 1 Nov 2018, 5:35 p.m.
DDX59 is associated with Orofaciodigital syndrome V in OMIM and has a probable association in Gene2Phenotype.
Both resources cite PMID: 23972372 which reports 2 families with individuals with Orofaciodigital syndrome and different homozygous variants in DDX59. A further two reports have since been published (PMIDs: 28711741;29127725) reporting 3 more families with Orofaciodigital syndrome and DDX59 variants. 4 of the families have individuals showing a postaxial polydactyly phenotype.
In summary, 5 families reported with Orofaciodigital syndrome and variants in DDX59. In 4 of the families there are individuals showing a postaxial polydactyly phenotypeCreated: 1 Nov 2018, 5:34 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Orofaciodigital syndrome V 174300
Publications
Gene: ddx59 has been classified as Green List (High Evidence).
Eleanor Williams: DDX59 is associated with Orofa
Gene: ddx59 has been removed from the panel.
Source Expert Review Removed was added to DDX59. Rating Changed from Green List (high evidence) to No List (delete)
Added phenotypes Orofaciodigital syndrome V 174300 for gene: DDX59 Publications for gene DDX59 were changed from 23972372; 28711741; 29127725 to 29127725; 28711741; 23972372 Rating Changed from Green List (high evidence) to Green List (high evidence)
Gene: ddx59 has been classified as Green List (High Evidence).
Phenotypes for gene: DDX59 were changed from Polydactyly to Polydactyly; Orofaciodigital syndrome V 174300
Publications for gene: DDX59 were set to
Mode of inheritance for gene: DDX59 was changed from to BIALLELIC, autosomal or pseudoautosomal
Gene: ddx59 has been classified as Green List (High Evidence).
DDX59 was added to Limb disorders panel. Sources: Victorian Clinical Genetics Services
DDX59 was created by Ellen McDonagh