Rare multisystem ciliopathy disorders
Gene: WDR19EnsemblGeneIds (GRCh38): ENSG00000157796
EnsemblGeneIds (GRCh37): ENSG00000157796
OMIM: 608151, Gene2Phenotype
WDR19 is in 20 panels
1 review
Alice Gardham (Genomics England)
2 nephronophthisis families identified, at least 8 families with Senior-Loken identified and one patient with short-rib thoracic dysplasia-5. Recognised on G2P and on GOS ciliopathy panelCreated: 19 Jan 2017, 3:39 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- Other
- Orphanet
- UKGTN
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- Expert list
- Phenotypes
-
- Nephronophthisis 13, 614377
- Senior-Loken syndrome 8, 616307
- ?Cranioectodermal dysplasia 4, 614378
- ?Short-rib thoracic dysplasia 5 with or without polydactyly, 614376
- Cranioectodermal dysplasia
- Jeune syndrome
- Nephronophthisis
- Senior-Loken syndrome
- ?Short-rib thoracic dysplasia 5 with or without polydactyly
- OMIM
- 608151
- Clinvar variants
- Variants in WDR19
- Penetrance
- Complete
- 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
panel promoted to version 1
Alice Gardham (Genomics England)Promoted to version 1 by Alice Gardham on 26th January 2017
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Upload gene information
Ellen McDonagh (Genomics England Curator)WDR19 was added to Rare multisystem ciliopathy disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services
Added New Source
Ellen McDonagh (Genomics England Curator)WDR19 was added to Rare multisystem ciliopathy disorderspanel. Source: Other
Added New Source
Ellen McDonagh (Genomics England Curator)WDR19 was added to Rare multisystem ciliopathy disorderspanel. Source: Orphanet
Upload gene information
Ellen McDonagh (Genomics England Curator)WDR19 was added to Rare multisystem ciliopathy disorderspanel. Sources: UKGTN
Upload gene information
Ellen McDonagh (Genomics England Curator)WDR19 was added to Rare multisystem ciliopathy disorderspanel. Sources: Emory Genetics Laboratory
Upload gene information
Ellen McDonagh (Genomics England Curator)WDR19 was added to Rare multisystem ciliopathy disorderspanel. Sources: Radboud University Medical Center, Nijmegen
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for gene WDR19 were set to Nephronophthisis 13, 614377;Senior-Loken syndrome 8, 616307;?Cranioectodermal dysplasia 4, 614378;?Short-rib thoracic dysplasia 5 with or without polydactyly, 614376
Created
Ellen McDonagh (Genomics England Curator)WDR19 was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)WDR19 was added to Rare multisystem ciliopathy disorderspanel. Sources: Expert list