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Intellectual disability

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 12 panels

4 reviews

Louise Daugherty (Genomics England Curator)

As a result of watchlist tag audit the watchlist tag was removed from ZSWIM6- this is now a green gene with sufficient evidence/review
Created: 13 Jan 2020, 4:30 p.m. | Last Modified: 13 Jan 2020, 4:30 p.m.
Panel Version: 3.0

Rebecca Foulger (Genomics England curator)

I don't know

Comment when marking as ready: Marked as ready: October 31st 2017. Green rating agreed by Arianna Tucci.
Created: 31 Oct 2017, 1:51 p.m.
Comment on list classification: Updated rating from Amber to Green following clinical review by Arianna Tucci who confirmed that pyschomotor delay (phenotype seen in >1 AFND patient) is a relevant ID phenotype: Sufficient cases to reach threshold for diagnostic rating.
Created: 31 Oct 2017, 1:49 p.m.
Rated Amber awaiting clinical review. Probable DD-G2P gene for Acromelic frontonasal dysostosis, MIM:603671, which includes mental retardation in some patients. 2 clinical reports identifying the same c.3487C>T; p.Arg1163Trp variant in AFND (MIM:603671) patients: PMID:25105228 (Smith, 2014) identify 3 unrelated children with severe neurocognitive delay and motor delay alongside AFND. In PMID:26706854 (Twigg, 2016), 1 AFND patient was reported with neurocognitive delay and one with pyschomotor delay.
Created: 31 Oct 2017, 1:44 p.m.

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

Phenotypes
Acromelic frontonasal dysostosis, 603671 (includes mental retardation); acromelic frontonasal dysostosis with severe intellectual disability

Ellen McDonagh (Genomics England Curator)

Comment on publications: Additional 3 individuals with the same variant reported in PMID: 26706854.
Created: 15 Mar 2017, 2:34 p.m.
Comment on publications: Additional 3 individuals with the same variant reported in PMID: 26706854.
Created: 15 Mar 2017, 2:33 p.m.
Added the curated variant list tag, as a single variant has been reported so far.
Created: 15 Mar 2017, 2:31 p.m.

Ellen Thomas (Genomics England Curator)

I don't know

Recurrent single de novo mutation in 4 families. No second mutation but keep under review.
Created: 1 Oct 2016, 11:26 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
ACROMELIC FRONTONASAL DYSOSTOSIS

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Other
Phenotypes
  • Acromelic frontonasal dysostosis, 603671
  • Includes mental retardation
  • acromelic frontonasal dysostosis with severe intellectual disability
Tags
curated-variant-list mosaicism
OMIM
615951
Clinvar variants
Variants in ZSWIM6
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

13 Jan 2020, Gel status: 3

Removed Tag

Louise Daugherty (Genomics England Curator)

Tag watchlist was removed from gene: ZSWIM6.

10 Sep 2018, Gel status: 4

Added Tag

Sarah Leigh (Genomics England Curator)

Tag mosaicism tag was added to gene: ZSWIM6.

12 Mar 2018, Gel status: 4

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

19 Dec 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for ZSWIM6 were set to Acromelic frontonasal dysostosis, 603671; Includes mental retardation; acromelic frontonasal dysostosis with severe intellectual disability

29 Nov 2017, Gel status: 4

Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

Expert Review Green was added to ZSWIM6. Panel: Intellectual disability Model of inheritance for gene ZSWIM6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

15 Mar 2017, Gel status: 0

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for ZSWIM6 were set to 25105228; 26706854

15 Mar 2017, Gel status: 0

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for ZSWIM6 were set to 25105228; 26706854

15 Mar 2017, Gel status: 0

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for ZSWIM6 were set to 25105228; 26706854

1 Oct 2016, Gel status: 0

Created

Ellen Thomas (Genomics England Curator)

ZSWIM6 was created by EllenThomas

1 Oct 2016, Gel status: 0

Added New Source

Ellen Thomas (Genomics England Curator)

ZSWIM6 was added to Intellectual disabilitypanel. Sources: Other