Deafness and congenital structural abnormalities
Gene: DWS4 reviews
Louise Daugherty (Genomics England Curator)
Comment on list classification: demoted to Grey, this is a phenotype locus type symbolCreated: 15 Aug 2017, 2 p.m.
Ellen McDonagh (Genomics England Curator)
Added tag to explain why there is no Ensembl gene ID for this entity.Created: 6 Jan 2017, 2:53 p.m.
This is a "phenotype-only" locus-type in HGNC...ZIC1 and ZIC4 may be candidate genes in this region? See http://omim.org/geneMap/3/560?start=-3&limit=10&highlight=560Created: 12 Sep 2016, 9:37 a.m.
Muriel Holder (Clinical Genetics, Guy's Hospital)
Mode of inheritance
Unknown
Mode of pathogenicity
Other
Ana Beleza (Bristol Regional Genetics Service)
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Removed
- Other
- Phenotypes
-
- Dandy-Walker syndrome, 220200
- Tags
- OMIM
- 220200
- Clinvar variants
- Variants in DWS
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
Added Tag
Arina Puzriakova (Genomics England Curator)Tag curated_removed tag was added to gene: DWS.
Added Tag
Eleanor Williams (Genomics England Curator)Tag ensembl_ids_known_missing tag was added to gene: DWS.
Gene classified by Genomics England curator
Louise Daugherty (Genomics England Curator)This gene has been removed from the panel.
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)26th Oct 2016: the panels Bilateral microtia version 1.10, Ear malformations with hearing impairment version 0.105, and familial hemifacial microsomia version 0.149 gene panels were combined to create this panel. The panel was revised due to expert review, further curation of evidence and internal clinical evaluation. Ready for promotion to version 1.
Added New Source
Sarah Leigh (Genomics England Curator)DWS was added to Deafness and congenital structural abnormalitiespanel. Sources: Other
Created
Sarah Leigh (Genomics England Curator)DWS was created by sleigh