Rare multisystem ciliopathy disorders
Gene: DDX59EnsemblGeneIds (GRCh38): ENSG00000118197
EnsemblGeneIds (GRCh37): ENSG00000118197
OMIM: 615464, Gene2Phenotype
DDX59 is in 13 panels
3 reviews
Eleanor Williams (Genomics England Curator)
Comment on publications: Adding publications from Zornitza StarkCreated: 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)
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)
Mutations only identified in two families. Probable DD on G2P. Offered on GOS ciliopathy panelCreated: 19 Jan 2017, 4:24 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Orofaciodigital syndrome V 174300
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- UKGTN
- Radboud University Medical Center, Nijmegen
- Expert list
- Phenotypes
-
- Orofaciodigital syndrome V, 174300
- OMIM
- 615464
- Clinvar variants
- Variants in DDX59
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Intellectual disability
- Fetal anomalies
- Thoracic dystrophies
- Clefting
- Rare multisystem ciliopathy disorders
- Childhood onset dystonia, chorea or related movement disorder
- Renal ciliopathies
- Ophthalmological ciliopathies
- Ductal plate malformation
- Skeletal ciliopathies
- Neurological ciliopathies
- Limb disorders
- DDG2P
History Filter Activity
Set publications
Eleanor Williams (Genomics England Curator)Publications for gene: DDX59 were set to 23972372
Entity classified by Genomics England curator
Eleanor Williams (Genomics England Curator)Gene: ddx59 has been classified as Green List (High Evidence).
panel promoted to version 1
Alice Gardham (Genomics England)Promoted to version 1 by Alice Gardham on 26th January 2017
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
Set publications
Alice Gardham (Genomics England)Publications for DDX59 were set to 23972372
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
Upload gene information
Ellen McDonagh (Genomics England Curator)DDX59 was added to Rare multisystem ciliopathy disorderspanel. Sources: UKGTN
Upload gene information
Ellen McDonagh (Genomics England Curator)DDX59 was added to Rare multisystem ciliopathy disorderspanel. Sources: Radboud University Medical Center, Nijmegen
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for gene DDX59 were set to Orofaciodigital syndrome V, 174300
Added New Source
Ellen McDonagh (Genomics England Curator)DDX59 was added to Rare multisystem ciliopathy disorderspanel. Sources: Expert list
Created
Ellen McDonagh (Genomics England Curator)DDX59 was created by ellenmcdonagh