Skeletal dysplasia
Gene: WDR34Added new-gene-name tag, new approved HGNC gene symbol for WDR34 is DYNC2I2Created: 7 May 2020, 12:48 p.m. | Last Modified: 7 May 2020, 12:48 p.m.
Panel Version: 2.7
Cilliopathies with major skeletal involvement gp of SDs. green - many recessive variants identified. mutations also lead to Jeune asphyxiating thoracic dystrophy; Review on behalf of Tracy Lester/Michael OldridgeCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Short-rib thoracic dysplasia 11 with or without polydactyly, 615633
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: WDR34; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:37 a.m.
Comment on list classification: Used diagnostically by Ana Beleza (Guy's and St Thomas' NHS Foundation Trust)Created: 21 Jun 2016, 1:15 p.m.
Tier 1Created: 17 Jun 2016, 8:09 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Short-rib thoracic dysplasia 11 with or without polydactyly 615633
Variants in this GENE are reported as part of current diagnostic practice
Tag new-gene-name tag was added to gene: WDR34.
Added phenotypes Short-rib thoracic dysplasia 11 with or without polydactyly, 615633 for gene: WDR34
Source NHS GMS was added to WDR34. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
Phenotypes for WDR34 were set to Short-rib thoracic dysplasia 11 with or without polydactyly, 615633
Mode of inheritance for WDR34 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
WDR34 was added to Unexplained skeletal dysplasiapanel. Source: Radboud University Medical Center, Nijmegen
WDR34 was added to Unexplained skeletal dysplasiapanel. Sources:
WDR34 was created by sleigh