Rare multisystem ciliopathy disorders
Gene: WDR192 nephronophthisis families identified, at least 8 families with Senior-Loken identified and one patient with short-rib thoracic dysplasia-5. Recognised on G2P and on GOS ciliopathy panelCreated: 19 Jan 2017, 3:39 p.m.
Promoted to version 1 by Alice Gardham on 26th January 2017
This gene has been classified as Green List (High Evidence).
WDR19 was added to Rare multisystem ciliopathy disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services
WDR19 was added to Rare multisystem ciliopathy disorderspanel. Source: Other
WDR19 was added to Rare multisystem ciliopathy disorderspanel. Source: Orphanet
WDR19 was added to Rare multisystem ciliopathy disorderspanel. Sources: UKGTN
WDR19 was added to Rare multisystem ciliopathy disorderspanel. Sources: Emory Genetics Laboratory
WDR19 was added to Rare multisystem ciliopathy disorderspanel. Sources: Radboud University Medical Center, Nijmegen
Phenotypes for gene WDR19 were set to Nephronophthisis 13, 614377;Senior-Loken syndrome 8, 616307;?Cranioectodermal dysplasia 4, 614378;?Short-rib thoracic dysplasia 5 with or without polydactyly, 614376
WDR19 was created by ellenmcdonagh
WDR19 was added to Rare multisystem ciliopathy disorderspanel. Sources: Expert list