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  3. ZSWIM6
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Genetic Epilepsy

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

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

Seizures listed in OMIM as a feature of both conditions.

PMID: 29198722 - seven unrelated individuals with a recurrent de novo nonsense variant p.Arg913* in the penultimate exon. 4/7 confirmed to have seizures or possible seizures.

PMID: 33958584 - Japanese male patient with severe neurodevelopmental delay, epilepsy, distinctive facial features, microcephaly, growth deficiency, abnormal behavior, and frequent vomiting but without frontonasal or limb malformations. Proband had the same de novo p.Arg913* variant
Sources: Literature
Created: 26 Feb 2024, 12:42 a.m.

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

Phenotypes
Acromelic frontonasal dysostosis MIM#603671; Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features MIM#617865

Publications

Created: 26 Feb 2024, 12:42 a.m.

Panel version: 0.2323

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
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
Panels with this gene

History Filter Activity

26 Feb 2024, Gel status: 3

Entity classified by Genomics England curator

Elena Savva (Victorian Clinical Genetics Services)

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

26 Feb 2024, Gel status: 3

Entity classified by Genomics England curator

Elena Savva (Victorian Clinical Genetics Services)

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

26 Feb 2024, Gel status: 1

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

Elena Savva (Victorian Clinical Genetics Services)

gene: ZSWIM6 was added gene: ZSWIM6 was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: ZSWIM6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ZSWIM6 were set to PMID: 29198722; 33958584 Phenotypes for gene: ZSWIM6 were set to Acromelic frontonasal dysostosis MIM#603671; Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features MIM#617865 Review for gene: ZSWIM6 was set to GREEN