Limb disorders
Gene: ZSWIM6EnsemblGeneIds (GRCh38): ENSG00000130449
EnsemblGeneIds (GRCh37): ENSG00000130449
OMIM: 615951, Gene2Phenotype
ZSWIM6 is in 11 panels
3 reviews
Andrew Wilkie (University of Oxford)
Gene suggested for the panelCreated: 1 Aug 2019, 5:10 p.m. | Last Modified: 1 Aug 2019, 5:10 p.m.
Panel Version: 1.24
Eleanor Williams (Genomics England Curator)
Comment on list classification: Recurrent missense (R1163W) is associated with acromelic frontonasal dysostosis, where relevant limb features are reported. 4 unrelated cases.
Gene is also on the skeletal ciliopathies panel but including here to avoid missing a potential diagnosis in the Genomic Medicine Service.
Created: 25 Nov 2019, 10:42 p.m. | Last Modified: 25 Nov 2019, 10:44 p.m.
Panel Version: 1.112
Comment on list classification: Gene made grey as it is green on the Rare multisystem ciliopathy disorders panel (v1.78) and the ciliopathy panel will be applied if a patient is suspected of having a ciliopathy, or the possibility of a ciliopathy cannot be excluded.Created: 2 Dec 2018, 11:17 p.m.
Sarah Leigh (Genomics England Curator)
Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. One variant reported in at least 7 unrelated cases, likely that observed variable phenotype results from mosaicism that was demonstrated in at least 2 cases. Modelling in zebra fish and mice suggests that ZSWIM6 variants associated with acromelic frontonasal dysostosis may lead to the craniofacial, brain and limb malformations through the disruption of Hedgehog signaling (PMID 25105228)Created: 10 Sep 2018, 10:05 a.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Acromelic frontonasal dysostosis 603671
- Tags
- OMIM
- 615951
- Clinvar variants
- Variants in ZSWIM6
- Penetrance
- None
- Publications
- Mode of Pathogenicity
- Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Eleanor Williams (Genomics England Curator)Gene: zswim6 has been classified as Green List (High Evidence).
Panel promoted to version 1.0
Eleanor Williams (Genomics England Curator)Sarah Leigh: Associated with relevant pheno
Entity classified by Genomics England curator
Eleanor Williams (Genomics England Curator)Gene: zswim6 has been removed from the panel.
Added New Source, Status Update
Eleanor Williams (Genomics England Curator)Source Expert Review Removed was added to ZSWIM6. Rating Changed from Amber List (moderate evidence) to No List (delete)
Added Tag
Sarah Leigh (Genomics England Curator)Tag missense tag was added to gene: ZSWIM6.
Set mode of pathogenicity
Sarah Leigh (Genomics England Curator)Mode of pathogenicity for gene: ZSWIM6 was changed from None to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: zswim6 has been classified as Amber List (Moderate Evidence).
Added Tag
Sarah Leigh (Genomics England Curator)Tag mosaicism tag was added to gene: ZSWIM6.
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: ZSWIM6 were set to
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: ZSWIM6 were changed from Polydactyly to Acromelic frontonasal dysostosis 603671
Set mode of inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for gene: ZSWIM6 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Ellen McDonagh (Genomics England Curator)ZSWIM6 was added to Limb disorders panel. Sources: Victorian Clinical Genetics Services
Created
Ellen McDonagh (Genomics England Curator)ZSWIM6 was created by Ellen McDonagh