Thoracic dystrophies
Gene: DDX59Comment on list classification: Expert review green, however only 2 families reported in the literature.Created: 26 May 2017, 10:45 a.m.
Phenotypes
OFD
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
Phenotypes
OFD
31/05/2017: Panel revised after expert input, clinical review, and further curation. Ready to promote to version 1.
This gene has been classified as Amber List (Moderate Evidence).
This gene has been classified as Amber List (Moderate Evidence).
Mode of inheritance for DDX59 was changed to BIALLELIC, autosomal or pseudoautosomal
Publications for DDX59 were set to 23972372
Phenotypes for DDX59 were set to Orofaciodigital syndrome V 174300 ; ORPHA:2919 Orofaciodigital syndrome type 5
Phenotypes for DDX59 were set to ORPHA:2919 Orofaciodigital syndrome type 5
This proposed gene was validated and added to this panel
DDX59 was added to Thoracic dystrophiespanel. Sources: Expert Review
DDX59 was created by hmitchis