Limb disorders

Gene: DDX59

Green List (high evidence)

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 phenotype

Created: 1 Nov 2018, 5:34 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Orofaciodigital syndrome V 174300

Publications

• 23972372
• 28711741
• 29127725