Polydactyly
Gene: DDX59

DDX59 (DEAD-box helicase 59)
EnsemblGeneIds (GRCh38): ENSG00000118197
EnsemblGeneIds (GRCh37): ENSG00000118197
OMIM: 615464, Gene2Phenotype
DDX59 is in 11 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

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 patient
Created: 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

Created: 3 Jul 2021, 3:58 a.m.
Last Modified: 3 Jul 2021, 3:58 a.m.
Panel version: 0.214

Anand Vasudevan (Royal Women's Hospital)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 21 Jul 2020, 3 a.m.
Last Modified: 21 Jul 2020, 3 a.m.
Panel version: 0.36

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Orofaciodigital syndrome V (MIM#174300)

OMIM

615464

Clinvar variants

Variants in DDX59

Penetrance

None

Publications

Panels with this gene