Thoracic dystrophies
Gene: WDR35EnsemblGeneIds (GRCh38): ENSG00000118965
EnsemblGeneIds (GRCh37): ENSG00000118965
OMIM: 613602, Gene2Phenotype
WDR35 is in 17 panels
4 reviews
Melita Irving (Guy's and St Thomas' NHS Trust)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cranioectodermal dysplasia 2, 613610Short rib-polydactyly syndrome, type V, 614091
Helen Brittain (Genomics England Curator)
Two unrelated cases to dateCreated: 26 May 2017, 7:40 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY; SRTD7
Hannah Mitchison (UCL and GOSH)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cranioectodermal dysplasia 2, 613610Short rib-polydactyly syndrome, type V, 614091
Helen Savage (Congenica Ltd)
Single patient reported in the literature.Created: 23 Feb 2016, 5:02 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Short-rib thoracic dysplasia 7 with or without polydactyly
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Cranioectodermal dysplasia 2, 613610Short rib-polydactyly syndrome, type V, 614091
- OMIM
- 613602
- Clinvar variants
- Variants in WDR35
- Penetrance
- Complete
- Panels with this gene
-
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Ectodermal dysplasia
- Skeletal ciliopathies
- Childhood onset dystonia, chorea or related movement disorder
- Skeletal dysplasia
- Clefting
- Intellectual disability
- Fetal anomalies
- DDG2P
- Osteogenesis imperfecta
- Ductal plate malformation
- Ectodermal dysplasia without a known gene mutation
- Renal ciliopathies
- Limb disorders
- Thoracic dystrophies
- Primary ciliary disorders
- Rare multisystem ciliopathy 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)WDR35 was added to Thoracic dystrophiespanel. Sources: Emory Genetics Laboratory
Added New Source
Eik Haraldsdottir (Genomics England)WDR35 was added to Thoracic dystrophiespanel. Sources: Illumina TruGenome Clinical Sequencing Services
Added New Source
Eik Haraldsdottir (Genomics England)WDR35 was added to Thoracic dystrophiespanel. Sources: Radboud University Medical Center, Nijmegen