Renal Ciliopathies and Nephronophthisis
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)

I don't know

5 unrelated families reported, renal involvement is not prominent.
Created: 3 Jul 2021, 4:04 a.m. | Last Modified: 3 Jul 2021, 4:04 a.m.

Panel Version: 0.174

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Orofaciodigital syndrome V (MIM#174300)

Publications

Created: 3 Jul 2021, 4:04 a.m.
Last Modified: 3 Jul 2021, 4:04 a.m.
Panel version: 0.174

Crystle Lee (Victorian Clinical Genetics Services)

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
Sources: Expert Review
Created: 18 May 2020, 4:31 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Orofaciodigital syndrome V (MIM#174300)

Publications

Created: 18 May 2020, 4:31 a.m.

Panel version: Imported from Joubert syndrome and other neurological ciliopathies panel version 0.62

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Amber
KidGen_CilioNephronop v38.1.0

Phenotypes

Orofaciodigital syndrome V (MIM#174300)

OMIM

615464

Clinvar variants

Variants in DDX59

Penetrance

None

Publications

Panels with this gene