Rare multisystem ciliopathy disorders
Gene: WDR34Added new-gene-name tag, new approved HGNC gene symbol for WDR34 is DYNC2I2Created: 7 May 2020, 12:50 p.m. | Last Modified: 7 May 2020, 12:50 p.m.
Panel Version: 1.124
Comment on list classification: Lots of literatureCreated: 19 Jan 2017, 4:45 p.m.
More than 10 reported cases. Recognised on G2P and offered on GOS ciliopathy panel . All missense/in frameCreated: 19 Jan 2017, 4:44 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Short-rib thoracic dysplasia 11 with or without polydactyly 615633
Publications
Tag new-gene-name tag was added to gene: WDR34.
Promoted to version 1 by Alice Gardham on 26th January 2017
This gene has been classified as Green List (High Evidence).
Publications for WDR34 were set to 24183449
This gene has been classified as Green List (High Evidence).
WDR34 was added to Rare multisystem ciliopathy disorderspanel. Source: Other
WDR34 was added to Rare multisystem ciliopathy disorderspanel. Source: Orphanet
WDR34 was added to Rare multisystem ciliopathy disorderspanel. Sources: UKGTN
WDR34 was added to Rare multisystem ciliopathy disorderspanel. Sources: Radboud University Medical Center, Nijmegen
Phenotypes for gene WDR34 were set to Short-rib thoracic dysplasia 11 with or without polydactyly, 615633
WDR34 was added to Rare multisystem ciliopathy disorderspanel. Sources: Expert list
WDR34 was created by ellenmcdonagh