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  3. ZSWIM6
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Ciliopathies

Gene: ZSWIM6

Amber List (moderate evidence)
ZSWIM6 (zinc finger SWIM-type containing 6)
EnsemblGeneIds (GRCh38): ENSG00000130449
EnsemblGeneIds (GRCh37): ENSG00000130449
OMIM: 615951, Gene2Phenotype
ZSWIM6 is in 15 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Comment when marking as ready: Agree, link to cilia not well established.
Created: 4 May 2020, 10:19 a.m. | Last Modified: 4 May 2020, 10:19 a.m.
Panel Version: 0.84
Created: 4 May 2020, 10:19 a.m.
Last Modified: 4 May 2020, 10:19 a.m.
Panel version: 0.84

Crystle Lee (Victorian Clinical Genetics Services)

I don't know

Minimal reports to date. Acromelic frontonasal dysostosis considered as likely ciliopathy in one paper.

PMID: 25105228: 4 pts with AFND (Arg1163Trp)

PMID: 28213462; AFND caused by this gene was classified as "Likely ciliopathy"

PMID: 29198722; Reported 7 unrelated individuals with a recurrent truncating variant. This patients were "Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features". No functional studies performed but postulated to be dominant-negative.

Rated green in PanelApp UK - Rare multisystem ciliopathy disorders list
Sources: Expert Review
Created: 4 May 2020, 4:04 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Acromelic frontonasal dysostosis (MIM#603671)

Publications

Mode of pathogenicity
Other

Created: 4 May 2020, 4:04 a.m.

Panel version: 0.78

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
Phenotypes
  • Acromelic frontonasal dysostosis (MIM#603671)
  • Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features, MIM# 617865
OMIM
615951
Clinvar variants
Variants in ZSWIM6
Penetrance
None
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

4 May 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

4 May 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

4 May 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

4 May 2020, Gel status: 0

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

Crystle Lee (Victorian Clinical Genetics Services)

gene: ZSWIM6 was added gene: ZSWIM6 was added to Ciliopathies. Sources: Expert Review Mode of inheritance for gene: ZSWIM6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ZSWIM6 were set to 25105228; 28213462; 29198722 Phenotypes for gene: ZSWIM6 were set to Acromelic frontonasal dysostosis (MIM#603671) Mode of pathogenicity for gene: ZSWIM6 was set to Other Review for gene: ZSWIM6 was set to AMBER