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
-
- Rare multisystem ciliopathy disorders
- Skeletal ciliopathies
- Clefting
- Ectodermal dysplasia
- Intellectual disability
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Renal ciliopathies
- Fetal anomalies
- Skeletal dysplasia
- Childhood onset dystonia, chorea or related movement disorder
- Osteogenesis imperfecta
- Ductal plate malformation
- Ectodermal dysplasia without a known gene mutation
- Limb disorders
- DDG2P
- Thoracic dystrophies
- Primary ciliary disorders
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)