Clefting
Gene: WDR19
WDR19 (WD repeat domain 19)
EnsemblGeneIds (GRCh38): ENSG00000157796
EnsemblGeneIds (GRCh37): ENSG00000157796
OMIM: 608151, Gene2Phenotype
WDR19 is in 20 panels
EnsemblGeneIds (GRCh38): ENSG00000157796
EnsemblGeneIds (GRCh37): ENSG00000157796
OMIM: 608151, Gene2Phenotype
WDR19 is in 20 panels
1 review
Helen Brittain (Genomics England Curator)
One case reported to dateCreated: 26 May 2017, 7:40 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY; SRTD5
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Phenotypes
-
- SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY
- SRTD5
- OMIM
- 608151
- Clinvar variants
- Variants in WDR19
- Penetrance
- Complete
- Panels with this gene
-
- Ophthalmological ciliopathies
- DDG2P
- Ectodermal dysplasia
- Childhood onset dystonia, chorea or related movement disorder
- Fetal anomalies
- Tubulointerstitial kidney disease
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Limb disorders
- Intellectual disability
- Unexplained kidney failure in young people
- Retinal disorders
- Renal ciliopathies
- Rare multisystem ciliopathy disorders
- Cystic kidney disease
- Ectodermal dysplasia without a known gene mutation
- Skeletal dysplasia
- Thoracic dystrophies
- Primary ciliary disorders
- Skeletal ciliopathies
- Clefting
History Filter Activity
31 May 2017, Gel status: 2
panel promoted to version 1
Louise Daugherty (Genomics England Curator)Panel reviews were assessed, and panel was revised according to reviews and further curation 31st May 2017
26 May 2017, Gel status: 2
Added New Source
Ellen McDonagh (Genomics England Curator)WDR19 was added to Cleftingpanel. Sources: Expert Review Amber
26 May 2017, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)WDR19 was created by ellenmcdonagh