Limb disordersGene: ZSWIM6
Gene suggested for the panel
Created: 1 Aug 2019, 5:10 p.m. | Last Modified: 1 Aug 2019, 5:10 p.m.
Panel Version: 1.24
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.
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.
Gene: zswim6 has been classified as Green List (High Evidence).
Sarah Leigh: Associated with relevant pheno
Gene: zswim6 has been removed from the panel.
Source Expert Review Removed was added to ZSWIM6. Rating Changed from Amber List (moderate evidence) to No List (delete)
Tag missense tag was added to gene: ZSWIM6.
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
Gene: zswim6 has been classified as Amber List (Moderate Evidence).
Tag mosaicism tag was added to gene: ZSWIM6.
Publications for gene: ZSWIM6 were set to
Phenotypes for gene: ZSWIM6 were changed from Polydactyly to Acromelic frontonasal dysostosis 603671
Mode of inheritance for gene: ZSWIM6 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
ZSWIM6 was added to Limb disorders panel. Sources: Victorian Clinical Genetics Services
ZSWIM6 was created by Ellen McDonagh