Renal ciliopathies

Gene: DDX59

Green List (high evidence)

DDX59 (DEAD-box helicase 59)
EnsemblGeneIds (GRCh38): ENSG00000118197
EnsemblGeneIds (GRCh37): ENSG00000118197
OMIM: 615464, Gene2Phenotype
DDX59 is in 16 panels

3 reviews

Eleanor Williams (Genomics England Curator)

Comment on publications: Adding publications from Zornitza Stark
Created: 1 Nov 2018, 5:03 p.m.
Comment on list classification: 5 families/cases now reported with an orofaciodigital syndrome phenotype and several variants so rating this gene green.
Created: 1 Nov 2018, 5:02 p.m.

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Please note 3 additional families reported in the literature.
Created: 4 Aug 2018, 4:22 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
OFD

Publications

Variants in this GENE are reported as part of current diagnostic practice

Alice Gardham (Genomics England)

Red List (low evidence)

Mutations only identified in two families. Probable DD on G2P. Offered on GOS ciliopathy panel
Created: 19 Jan 2017, 4:24 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Orofaciodigital syndrome V 174300

Publications

History Filter Activity

10 Jul 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Eleanor Williams (Genomics England Curator)

gene: DDX59 was added gene: DDX59 was added to Renal ciliopathies. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green Mode of inheritance for gene: DDX59 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DDX59 were set to 29127725; 23972372; 28711741 Phenotypes for gene: DDX59 were set to Orofaciodigital syndrome V, 174300