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Skeletal Dysplasia_Fetal

Gene: WDR34

Green List (high evidence)
WDR34 (WD repeat domain 34)
EnsemblGeneIds (GRCh38): ENSG00000119333
EnsemblGeneIds (GRCh37): ENSG00000119333
OMIM: 613363, Gene2Phenotype
WDR34 is in 14 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

At least 5 families reported with a skeletal ciliopathy, supportive mouse model and other functional data.
Created: 7 Jul 2021, 8:24 a.m. | Last Modified: 7 Jul 2021, 8:24 a.m.
Panel Version: 0.95

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Short-rib thoracic dysplasia 11 with or without polydactyly, MIM# 615633

Publications

Created: 7 Jul 2021, 8:24 a.m.
Last Modified: 7 Jul 2021, 8:24 a.m.
Panel version: Imported from Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy panel version 0.95

Chirag Patel (Genetic Health Queensland)

Red List (low evidence)

Not a renal ciliopathy despite being a ciliopathy gene.
Created: 3 Jan 2020, 4:47 a.m. | Last Modified: 3 Jan 2020, 4:47 a.m.
Panel Version: 0.54

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Short-rib thoracic dysplasia 11 with or without polydactyly, OMIM #615633

Created: 3 Jan 2020, 4:47 a.m.
Last Modified: 3 Jan 2020, 4:47 a.m.
Panel version: Imported from Fetal anomalies panel version Imported from Renal Ciliopathies and Nephronophthisis panel version 0.54

History Filter Activity

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: WDR34 was added gene: WDR34 was added to Skeletal dysplasia Fetal_MelbourneGenomics_VCGS. Sources: Melbourne Genomics Health Alliance Perinatal Autopsy Flagship,Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: WDR34 was set to Unknown