Rare multisystem ciliopathy disorders
Gene: ZSWIM6

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: 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

25105228

Mode of pathogenicity
Other

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

Panel version: 0.488

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Literature

Phenotypes

Acromelic frontonasal dysostosis 603671

Tags

watchlist curated-variant-list

OMIM

615951

Clinvar variants

Variants in ZSWIM6

Penetrance

Complete

Publications

25105228

Mode of Pathogenicity

Other - please provide details in the comments

Panels with this gene