Ductal plate malformation
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
0 reviews
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Removed
- UKGTN
- Phenotypes
-
- Orofaciodigital syndrome V (174300)
- Tags
- OMIM
- 615464
- Clinvar variants
- Variants in DDX59
- Penetrance
- None
- 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
26 Feb 2021, Gel status: 0
Added Tag
Arina Puzriakova (Genomics England Curator)Tag curated_removed tag was added to gene: DDX59.
30 Nov 2018, Gel status: 0
Panel promoted to version 1.0
Ellen McDonagh (Genomics England Curator)Ivone Leong: New gene name is CPLANE
12 Nov 2018, Gel status: 0
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert Review Removed was added to DDX59. Rating Changed from Red List (low evidence) to No List (delete)
6 Nov 2018, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: DDX59 was added gene: DDX59 was added to Ductal plate malformation (DPM). Sources: UKGTN Mode of inheritance for gene: DDX59 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DDX59 were set to Orofaciodigital syndrome V (174300)