Skeletal ciliopathies

Gene: DDX59

No list

DDX59 (DEAD-box helicase 59)
EnsemblGeneIds (GRCh38): ENSG00000118197
EnsemblGeneIds (GRCh37): ENSG00000118197
OMIM: 615464, Gene2Phenotype
DDX59 is in 15 panels

3 reviews

Eleanor Williams (Genomics England Curator)

Comment on list classification: After consultation with the Genomics England clinical team, removing this gene from the skeletal ciliopathies panel as the skeletal phenotype is mainly polydactyly.
Created: 15 Nov 2019, 12:28 p.m. | Last Modified: 15 Nov 2019, 12:28 p.m.
Panel Version: 0.17
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



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

Orofaciodigital syndrome V 174300


History Filter Activity

26 Feb 2021, Gel status: 0

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag curated_removed tag was added to gene: DDX59.

15 Nov 2019, Gel status: 0

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: ddx59 has been removed from the panel.

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 Skeletal 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