Ductal plate malformation
Gene: WDR35EnsemblGeneIds (GRCh38): ENSG00000118965
EnsemblGeneIds (GRCh37): ENSG00000118965
OMIM: 613602, Gene2Phenotype
WDR35 is in 17 panels
0 reviews
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Removed
- UKGTN
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Expert list
- Phenotypes
-
- Cranioectodermal dysplasia 2 (613610)
- Short-rib thoracic dysplasia 7 with or without polydactyly (614091)
- Tags
- OMIM
- 613602
- Clinvar variants
- Variants in WDR35
- Penetrance
- None
- Panels with this gene
-
- Skeletal dysplasia
- Limb disorders
- Intellectual disability
- DDG2P
- Ectodermal dysplasia
- Childhood onset dystonia, chorea or related movement disorder
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Ductal plate malformation
- Renal ciliopathies
- Osteogenesis imperfecta
- Rare multisystem ciliopathy disorders
- Ectodermal dysplasia without a known gene mutation
- Clefting
- Thoracic dystrophies
- Primary ciliary disorders
- Skeletal ciliopathies
- Fetal anomalies
History Filter Activity
Added Tag
Arina Puzriakova (Genomics England Curator)Tag curated_removed tag was added to gene: WDR35.
Panel promoted to version 1.0
Ellen McDonagh (Genomics England Curator)Bill Griffiths: I have a patient with OFD1 and
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert Review Removed was added to WDR35. Rating Changed from Green List (high evidence) to No List (delete)
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: WDR35 was added gene: WDR35 was added to Ductal plate malformation (DPM). Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN Mode of inheritance for gene: WDR35 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: WDR35 were set to Cranioectodermal dysplasia 2 (613610); Short-rib thoracic dysplasia 7 with or without polydactyly (614091)