Ectodermal dysplasia
Gene: WDR35EnsemblGeneIds (GRCh38): ENSG00000118965
EnsemblGeneIds (GRCh37): ENSG00000118965
OMIM: 613602, Gene2Phenotype
WDR35 is in 17 panels
3 reviews
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Phenotypes not relevant to this panelCreated: 10 Aug 2016, 9:13 a.m.
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Demoted from amber to red due to expert reviewer comments.Created: 25 Jul 2016, 8:53 a.m.
Please note the suggested mode of inheritance under John McGrath's evaluation was automatically transferred from the original sources and was not provided in his review.Created: 19 Nov 2015, 3:17 p.m.
John McGrath (King's College London)
Cranioectdermal dysplasia sounds like an ED but isn't reallyCreated: 19 Nov 2015, 3:06 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Phenotypes
-
- Short rib-polydactyly syndrome, type V, 614091
- Cranioectodermal dysplasia 2, 613610
- Cranioectodermal Dysplasia
- OMIM
- 613602
- Clinvar variants
- Variants in WDR35
- Penetrance
- None
- Panels with this gene
-
- Renal ciliopathies
- Limb disorders
- DDG2P
- Fetal anomalies
- Clefting
- Osteogenesis imperfecta
- Ectodermal dysplasia
- Ductal plate malformation
- Skeletal ciliopathies
- 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
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: WDR35 was added gene: WDR35 was added to Ectodermal dysplasia. Sources: Expert Review Red Mode of inheritance for gene: WDR35 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: WDR35 were set to Short rib-polydactyly syndrome, type V, 614091; Cranioectodermal dysplasia 2, 613610; Cranioectodermal Dysplasia