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  3. ZSWIM6
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Fetal anomalies

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

4 reviews

Arina Puzriakova (Genomics England Curator)

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 3 Mar 2022, 11:19 a.m. | Last Modified: 3 Mar 2022, 11:19 a.m.
Panel Version: 1.836
Created: 3 Mar 2022, 11:19 a.m.
Last Modified: 3 Mar 2022, 11:19 a.m.
Panel version: 1.836

Catherine Snow (Genomics England)

Comment on list classification: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Created: 1 Feb 2021, 11:38 a.m. | Last Modified: 1 Feb 2021, 11:38 a.m.
Panel Version: 1.355
Created: 1 Feb 2021, 11:38 a.m.
Last Modified: 1 Feb 2021, 11:38 a.m.
Panel version: 1.355

Rhiannon Mellis (Great Ormond Street Hospital)

Green List (high evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other PanelApp panel (Clefting; Limb disorders; Rare multisystem ciliopathy Super panel; Skeletal dysplasia). Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.
Created: 28 Jan 2021, 10:06 a.m. | Last Modified: 28 Jan 2021, 10:06 a.m.
Panel Version: 1.185

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

Phenotypes
Acromelic frontonasal dysostosis

Created: 28 Jan 2021, 10:06 a.m.
Last Modified: 28 Jan 2021, 10:06 a.m.
Panel version: 1.185

Rebecca Foulger (Genomics England curator)

I don't know

DDG2P rating in original PAGE list: Probable for ACROMELIC FRONTONASAL DYSOSTOSIS
Created: 11 Dec 2018, 9:05 a.m.
In the original PAGE file, MOP listed as Activating.
Created: 8 Nov 2018, 4:45 p.m.

Mode of pathogenicity
Other - please provide details in the comments

Created: 8 Nov 2018, 4:45 p.m.

Panel version: 0.9

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • ACROMELIC FRONTONASAL DYSOSTOSIS
OMIM
615951
Clinvar variants
Variants in ZSWIM6
Penetrance
None
Panels with this gene

History Filter Activity

3 Mar 2022, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review was removed from gene: ZSWIM6.

3 Mar 2022, Gel status: 3

Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source Expert Review Green was added to ZSWIM6. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

1 Feb 2021, Gel status: 2

Added Tag

Catherine Snow (Genomics England)

Tag for-review tag was added to gene: ZSWIM6.

1 Feb 2021, Gel status: 2

Entity classified by Genomics England curator

Catherine Snow (Genomics England)

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

8 Nov 2018, Gel status: 2

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

Rebecca Foulger (Genomics England curator)

gene: ZSWIM6 was added gene: ZSWIM6 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: ZSWIM6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ZSWIM6 were set to ACROMELIC FRONTONASAL DYSOSTOSIS