Thoracic dystrophies
Gene: WDR19EnsemblGeneIds (GRCh38): ENSG00000157796
EnsemblGeneIds (GRCh37): ENSG00000157796
OMIM: 608151, Gene2Phenotype
WDR19 is in 20 panels
4 reviews
Melita Irving (Guy's and St Thomas' NHS Trust)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Asphyxiating thoracic dystrophy 5, 614376
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
Hannah Mitchison (UCL and GOSH)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Asphyxiating thoracic dystrophy 5, 614376
Helen Savage (Congenica Ltd)
Single patient reported in the literature.Created: 23 Feb 2016, 5:01 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Short-rib thoracic dysplasia 5 with or without polydactyly; Nephronophthisis 13; Senior-Loken syndrome 8
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Asphyxiating thoracic dystrophy 5, 614376
- OMIM
- 608151
- Clinvar variants
- Variants in WDR19
- Penetrance
- Complete
- Panels with this gene
-
- Rare multisystem ciliopathy disorders
- Childhood onset dystonia, chorea or related movement disorder
- Renal ciliopathies
- Tubulointerstitial kidney disease
- Ophthalmological ciliopathies
- Unexplained kidney failure in young people
- Limb disorders
- DDG2P
- Intellectual disability
- Ectodermal dysplasia
- Clefting
- Retinal disorders
- Skeletal ciliopathies
- Cystic kidney disease
- Ectodermal dysplasia without a known gene mutation
- Fetal anomalies
- Thoracic dystrophies
- Skeletal dysplasia
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Primary ciliary disorders
History Filter Activity
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)31/05/2017: Panel revised after expert input, clinical review, and further curation. Ready to promote to version 1.
Added New Source
Eik Haraldsdottir (Genomics England)WDR19 was added to Thoracic dystrophiespanel. Sources: Emory Genetics Laboratory
Added New Source
Eik Haraldsdottir (Genomics England)WDR19 was added to Thoracic dystrophiespanel. Sources: Radboud University Medical Center, Nijmegen
Added New Source
Eik Haraldsdottir (Genomics England)WDR19 was added to Thoracic dystrophiespanel. Sources: Illumina TruGenome Clinical Sequencing Services