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Skeletal ciliopathies

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

3 reviews

Eleanor Williams (Genomics England Curator)

Associated with Acromelic frontonasal dysostosis #603671 (AD) and Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features #617865 (AD) in OMIM.

Acromelic frontonasal dysostosis - OMIM lists the skeletal phenotypes of Patellar hypoplasia or aplasia (in some patients), Tibial hypoplasia, polydactyly of hands and feet, Talipes equinovarus.

Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features - OMIM lists the skeletal phenotype of Foot deformities (in some patients) only
Created: 14 Nov 2019, 2:22 p.m. | Last Modified: 14 Nov 2019, 2:22 p.m.
Panel Version: 0.15
Created: 14 Nov 2019, 2:22 p.m.
Last Modified: 14 Nov 2019, 2:22 p.m.
Panel version: 0.15

Ellen McDonagh (Genomics England Curator)

Tags added: single variant reported.
Created: 15 Mar 2017, 2:31 p.m.
Created: 15 Mar 2017, 2:31 p.m.

Panel version: Imported from Rare multisystem ciliopathy disorders panel version 1.22

Alice Gardham (Genomics England)

Green List (high evidence)

Comment on mode of pathogenicity: Thought to be activating mutations
Created: 25 Jan 2017, 4:50 p.m.
Comment on list classification: Differential diagnosis of ciliopathy
Created: 25 Jan 2017, 4:50 p.m.
Mutations identified in four patients
Probable DD on G2P
Activating mutations
Created: 25 Jan 2017, 4:49 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Acromelic frontonasal dysostosis 603671

Publications

Mode of pathogenicity
Other

Created: 25 Jan 2017, 4:49 p.m.

Panel version: Imported from Rare multisystem ciliopathy disorders panel version 0.488

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Acromelic frontonasal dysostosis 603671
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

10 Jul 2019, Gel status: 3

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

Eleanor Williams (Genomics England Curator)

gene: ZSWIM6 was added gene: ZSWIM6 was added to Skeletal ciliopathies. Sources: Literature,Expert Review Green Mode of inheritance for gene: ZSWIM6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ZSWIM6 were set to 25105228 Phenotypes for gene: ZSWIM6 were set to Acromelic frontonasal dysostosis 603671 Mode of pathogenicity for gene: ZSWIM6 was set to Other - please provide details in the comments