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  2. Neurological ciliopathies
  3. ZSWIM6
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Neurological 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

2 reviews

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
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

25 Jul 2019, Gel status: 3

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

Ellen McDonagh (Genomics England Curator)

gene: ZSWIM6 was added gene: ZSWIM6 was added to Neurological ciliopathies. Sources: 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