Thoracic dystrophies
Gene: DDX59EnsemblGeneIds (GRCh38): ENSG00000118197
EnsemblGeneIds (GRCh37): ENSG00000118197
OMIM: 615464, Gene2Phenotype
DDX59 is in 13 panels
4 reviews
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Expert review green, however only 2 families reported in the literature.Created: 26 May 2017, 10:45 a.m.
Melita Irving (Guy's and St Thomas' NHS Trust)
Phenotypes
OFD
Helen Brittain (Genomics England Curator)
Comment when marking as ready: In view of only two cases in the literature, and neither of them having a clear thoracic phenotype (see PMID 23972372) I would rate this gene as amber and watchlist, despite the presence of expert green reviews.Created: 30 May 2017, 9:53 a.m.
Only two reported cases in the literatureCreated: 25 May 2017, 12:40 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
OROFACIODIGITAL SYNDROME V, OFD5 #174300
Hannah Mitchison (UCL and GOSH)
Phenotypes
OFD
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Phenotypes
-
- Orofaciodigital syndrome V 174300
- ORPHA:2919 Orofaciodigital syndrome type 5
- Tags
- OMIM
- 615464
- Clinvar variants
- Variants in DDX59
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Thoracic dystrophies
- Rare multisystem ciliopathy disorders
- Neurological ciliopathies
- Renal ciliopathies
- Ophthalmological ciliopathies
- Childhood onset dystonia, chorea or related movement disorder
- Skeletal ciliopathies
- Intellectual disability
- Ductal plate malformation
- Clefting
- Limb disorders
- Fetal anomalies
- DDG2P
History Filter Activity
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)31/05/2017: Panel revised after expert input, clinical review, and further curation. Ready to promote to version 1.
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for DDX59 was changed to BIALLELIC, autosomal or pseudoautosomal
Set publications
Ellen McDonagh (Genomics England Curator)Publications for DDX59 were set to 23972372
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for DDX59 were set to Orofaciodigital syndrome V 174300 ; ORPHA:2919 Orofaciodigital syndrome type 5
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for DDX59 were set to ORPHA:2919 Orofaciodigital syndrome type 5
Approved Gene
Ellen McDonagh (Genomics England Curator)This proposed gene was validated and added to this panel
Added New Source
Hannah Mitchison (UCL and GOSH)DDX59 was added to Thoracic dystrophiespanel. Sources: Expert Review
Created
Hannah Mitchison (UCL and GOSH)DDX59 was created by hmitchis