Clefting
Gene: DDX59
DDX59 (DEAD-box helicase 59)
EnsemblGeneIds (GRCh38): ENSG00000118197
EnsemblGeneIds (GRCh37): ENSG00000118197
OMIM: 615464, Gene2Phenotype
DDX59 is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000118197
EnsemblGeneIds (GRCh37): ENSG00000118197
OMIM: 615464, Gene2Phenotype
DDX59 is in 13 panels
1 review
Helen Brittain (Genomics England Curator)
Only two reported families identified to dateCreated: 26 May 2017, 7:40 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
OROFACIODIGITAL SYNDROME V; OFD5
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Phenotypes
-
- OROFACIODIGITAL SYNDROME V
- OFD5
- OMIM
- 615464
- Clinvar variants
- Variants in DDX59
- Penetrance
- Complete
- Panels with this gene
-
- Fetal anomalies
- Clefting
- Thoracic dystrophies
- Rare multisystem ciliopathy disorders
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Renal ciliopathies
- Limb disorders
- Ophthalmological ciliopathies
- Ductal plate malformation
- Skeletal ciliopathies
- Neurological ciliopathies
- DDG2P
History Filter Activity
31 May 2017, Gel status: 2
panel promoted to version 1
Louise Daugherty (Genomics England Curator)Panel reviews were assessed, and panel was revised according to reviews and further curation 31st May 2017
26 May 2017, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)DDX59 was created by ellenmcdonagh
26 May 2017, Gel status: 2
Added New Source
Ellen McDonagh (Genomics England Curator)DDX59 was added to Cleftingpanel. Sources: Expert Review Amber