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Limb disorders

Gene: ZSWIM6

No list

ZSWIM6 (zinc finger SWIM-type containing 6)
EnsemblGeneIds (GRCh38): ENSG00000130449
EnsemblGeneIds (GRCh37): ENSG00000130449
OMIM: 615951, Gene2Phenotype
ZSWIM6 is in 9 panels

3 reviews

Andrew Wilkie (University of Oxford)

I don't know

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

Eleanor Williams (Genomics England Curator)

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 Removed
  • Victorian Clinical Genetics Services
Phenotypes
  • Acromelic frontonasal dysostosis 603671
Tags
missense mosaicism
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

11 Dec 2018, Gel status: 0

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Sarah Leigh: Associated with relevant pheno

2 Dec 2018, Gel status: 0

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: zswim6 has been removed from the panel.

2 Dec 2018, Gel status: 0

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)

18 Sep 2018, Gel status: 2

Added Tag

Sarah Leigh (Genomics England Curator)

Tag missense tag was added to gene: ZSWIM6.

18 Sep 2018, Gel status: 2

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

10 Sep 2018, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: zswim6 has been classified as Amber List (Moderate Evidence).

10 Sep 2018, Gel status: 1

Added Tag

Sarah Leigh (Genomics England Curator)

Tag mosaicism tag was added to gene: ZSWIM6.

10 Sep 2018, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: ZSWIM6 were set to

10 Sep 2018, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: ZSWIM6 were changed from Polydactyly to Acromelic frontonasal dysostosis 603671

10 Sep 2018, Gel status: 1

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

13 Aug 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

ZSWIM6 was added to Limb disorders panel. Sources: Victorian Clinical Genetics Services

13 Aug 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

ZSWIM6 was created by Ellen McDonagh