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  2. Frontonasal dysplasia
  3. ZSWIM6
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Frontonasal dysplasia

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 15 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Recurrent missense identified in 6 unrelated families, p.Arg1163Trp
Created: 29 Aug 2020, 8:33 a.m. | Last Modified: 29 Aug 2020, 8:33 a.m.
Panel Version: 0.1

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Acromelic frontonasal dysostosis, MIM# 603671

Publications

Created: 29 Aug 2020, 8:33 a.m.
Last Modified: 29 Aug 2020, 8:33 a.m.
Panel version: 0.1

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Acromelic frontonasal dysostosis, MIM# 603671
OMIM
615951
Clinvar variants
Variants in ZSWIM6
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Aug 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: zswim6 has been classified as Green List (High Evidence).

29 Aug 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ZSWIM6 were changed from to Acromelic frontonasal dysostosis, MIM# 603671

29 Aug 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ZSWIM6 were set to

29 Aug 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: ZSWIM6 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ZSWIM6 was added gene: ZSWIM6 was added to Frontonasal dysplasia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ZSWIM6 was set to Unknown