Rare multisystem ciliopathy disorders
Gene: DDX59Comment 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.
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
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
Publications for gene: DDX59 were set to 23972372
Gene: ddx59 has been classified as Green List (High Evidence).
Promoted to version 1 by Alice Gardham on 26th January 2017
This gene has been classified as Red List (Low Evidence).
Publications for DDX59 were set to 23972372
This gene has been classified as Red List (Low Evidence).
DDX59 was added to Rare multisystem ciliopathy disorderspanel. Sources: UKGTN
DDX59 was added to Rare multisystem ciliopathy disorderspanel. Sources: Radboud University Medical Center, Nijmegen
Phenotypes for gene DDX59 were set to Orofaciodigital syndrome V, 174300
DDX59 was added to Rare multisystem ciliopathy disorderspanel. Sources: Expert list
DDX59 was created by ellenmcdonagh