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  3. ZSWIM6
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Childhood onset dystonia, chorea or related movement disorder

Gene: ZSWIM6

Green List (high evidence)
ZSWIM6 (zinc finger SWIM-type containing 6)
EnsemblGeneIds (GRCh38): ENSG00000130449
EnsemblGeneIds (GRCh37): ENSG00000130449
OMIM: 615951, Gene2Phenotype
ZSWIM6 is in 11 panels

1 review

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Green List (high evidence)

Created: 9 Jul 2019, 4:24 p.m.
Last Modified: 9 Jul 2019, 4:24 p.m.
Panel version: Imported from GMS Neurology specialist test group-Movement disorders - childhood onset-LNGLH_v2 panel version 0.9

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • PanelApp
  • Expert Review Green
  • London North GLH
Phenotypes
  • Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features, 617865
OMIM
615951
Clinvar variants
Variants in ZSWIM6
Penetrance
None
Publications
Mode of Pathogenicity
Other - please provide details in the comments
Panels with this gene

History Filter Activity

8 Dec 2019, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: ZSWIM6 were changed from Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features, 617865 to Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features, 617865

7 Dec 2019, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: ZSWIM6 were changed from Acromelic frontonasal dysostosis 603671 to Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features, 617865

6 Dec 2019, Gel status: 3

Added New Source, Set mode of inheritance, Set mode of pathogenicity, Set Phenotypes, Set publications

Ellen McDonagh (Genomics England Curator)

Source PanelApp was added to ZSWIM6. Mode of inheritance for gene ZSWIM6 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mode of pathogenicity for gene ZSWIM6 was changed from to Other - please provide details in the comments Added phenotypes Acromelic frontonasal dysostosis 603671 for gene: ZSWIM6 Publications for gene ZSWIM6 were changed from to 25105228

6 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

gene: ZSWIM6 was added gene: ZSWIM6 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: ZSWIM6 was set to