Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy
Gene: WDR19EnsemblGeneIds (GRCh38): ENSG00000157796
EnsemblGeneIds (GRCh37): ENSG00000157796
OMIM: 608151, Gene2Phenotype
WDR19 is in 16 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Variants in this gene are associated with a range of ciliopathies. Two families reported with a predominantly skeletal phenotype.Created: 7 Jul 2021, 9:32 a.m. | Last Modified: 7 Jul 2021, 9:32 a.m.
Panel Version: 0.101
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Short-rib thoracic dysplasia 5 with or without polydactyly, MIM# 614376
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Victorian Clinical Genetics Services
- Phenotypes
-
- Short-rib thoracic dysplasia 5 with or without polydactyly, MIM# 614376
- OMIM
- 608151
- Clinvar variants
- Variants in WDR19
- Penetrance
- None
- Publications
- Panels with this gene
-
- Ciliopathies
- Mackenzie's Mission_Reproductive Carrier Screening
- Polydactyly
- Clefting disorders
- Prepair 1000+
- BabyScreen+ newborn screening
- Renal Ciliopathies and Nephronophthisis
- Intellectual disability syndromic and non-syndromic
- Craniosynostosis
- Skeletal dysplasia
- Fetal anomalies
- Additional findings_Paediatric
- Skeletal Dysplasia_Fetal
- Mendeliome
- Syndromic Retinopathy
- Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: wdr19 has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: WDR19 were changed from to Short-rib thoracic dysplasia 5 with or without polydactyly, MIM# 614376
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: WDR19 were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: WDR19 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: wdr19 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: WDR19 was added gene: WDR19 was added to Short Rib Polydactyly, Jeune Asphyxiating Thoracic Dystrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: WDR19 was set to Unknown