Thoracic dystrophies
Gene: WDR34Added new-gene-name tag, new approved HGNC gene symbol for WDR34 is DYNC2I2Created: 7 May 2020, 12:43 p.m. | Last Modified: 7 May 2020, 12:43 p.m.
Panel Version: 1.7
Phenotypes
JATD
Phenotypes
JATD
Comment on list classification: Confirmed with Hannah Mitchison this should be green.Created: 31 May 2017, 8:24 a.m.
Several cases with biallelic mutations. Above PMID Schmidts et al report early lethality due to severe respiratory phenotype. Therefore appropriate for inclusion.Created: 25 May 2017, 1:33 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.
31/05/2017: Panel revised after expert input, clinical review, and further curation. Ready to promote to version 1.
Phenotypes for WDR34 were set to Short-rib thoracic dysplasia 11 with or without polydactyly, 615633;Jeune Asphyxiating Thoracic Dystrophy
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Publications for WDR34 were set to 24183451
Mode of inheritance for WDR34 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Amber List (Moderate Evidence).
This gene has been classified as Amber List (Moderate Evidence).
WDR34 was added to Thoracic dystrophiespanel. Sources: Radboud University Medical Center, Nijmegen