Limb disorders
Gene: WDR19EnsemblGeneIds (GRCh38): ENSG00000157796
EnsemblGeneIds (GRCh37): ENSG00000157796
OMIM: 608151, Gene2Phenotype
WDR19 is in 20 panels
2 reviews
Eleanor Williams (Genomics England Curator)
Comment on list classification: Gene made grey as it is green on the Rare multisystem ciliopathy disorders panel (v1.78) and the ciliopathy panel will be applied if a patient is suspected of having a ciliopathy, or the possibility of a ciliopathy cannot be excluded.Created: 2 Dec 2018, 11:15 p.m.
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. Two variants reported as compound heterozygotes in affected members of one family with Cranioectodermal dysplasia 4 and one homozygous variant reported in Short-rib thoracic dysplasia 5 without polydactyly 614376, but this phenotype also includes brachydactyly.Created: 10 Sep 2018, 12:29 p.m.
Comment on phenotypes: Variants also reported in Nephronophthisis 13 614377 & Senior-Loken syndrome 8 616307, but these phenotypes are not relevant to the limb disorders panelCreated: 10 Sep 2018, 12:25 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Removed
- Victorian Clinical Genetics Services
- Phenotypes
-
- ?Cranioectodermal dysplasia 4 614378
- ?Short-rib thoracic dysplasia 5 with or without polydactyly 614376
- Tags
- OMIM
- 608151
- Clinvar variants
- Variants in WDR19
- Penetrance
- None
- Publications
- Panels with this gene
-
- Ectodermal dysplasia without a known gene mutation
- Skeletal dysplasia
- Thoracic dystrophies
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Renal ciliopathies
- Limb disorders
- Tubulointerstitial kidney disease
- Ophthalmological ciliopathies
- Unexplained kidney failure in young people
- Retinal disorders
- DDG2P
- Fetal anomalies
- Clefting
- Ectodermal dysplasia
- Skeletal ciliopathies
- Cystic kidney disease
History Filter Activity
Added Tag
Arina Puzriakova (Genomics England Curator)Tag curated_removed tag was added to gene: WDR19.
Panel promoted to version 1.0
Eleanor Williams (Genomics England Curator)Sarah Leigh: Comment on phenotypes: Variant
Entity classified by Genomics England curator
Eleanor Williams (Genomics England Curator)Gene: wdr19 has been removed from the panel.
Added New Source, Status Update
Eleanor Williams (Genomics England Curator)Source Expert Review Removed was added to WDR19. Rating Changed from Red List (low evidence) to No List (delete)
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: wdr19 has been classified as Red List (Low Evidence).
Set mode of inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for gene: WDR19 was changed from to BIALLELIC, autosomal or pseudoautosomal
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: WDR19 were changed from ?Cranioectodermal dysplasia 4 614378; ?Short-rib thoracic dysplasia 5 with or without polydactyly 614376 to ?Cranioectodermal dysplasia 4 614378; ?Short-rib thoracic dysplasia 5 with or without polydactyly 614376
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: WDR19 were set to
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: WDR19 were changed from Polydactyly to ?Cranioectodermal dysplasia 4 614378; ?Short-rib thoracic dysplasia 5 with or without polydactyly 614376
Added New Source
Ellen McDonagh (Genomics England Curator)WDR19 was added to Limb disorders panel. Sources: Victorian Clinical Genetics Services
Created
Ellen McDonagh (Genomics England Curator)WDR19 was created by Ellen McDonagh