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Genetic Epilepsy
Gene: WASF1

WASF1 (WAS protein family member 1)
EnsemblGeneIds (GRCh38): ENSG00000112290
EnsemblGeneIds (GRCh37): ENSG00000112290
OMIM: 605035, Gene2Phenotype
WASF1 is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

More than 10 unrelated individuals reported.
Created: 13 May 2022, 9:08 a.m. | Last Modified: 13 May 2022, 9:08 a.m.

Panel Version: 0.14247

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Neurodevelopmental disorder with absent language and variable seizures , MIM#618707

Publications

Created: 13 May 2022, 9:08 a.m.
Last Modified: 13 May 2022, 9:08 a.m.
Panel version: Imported from Mendeliome panel version 0.14247

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Victorian Clinical Genetics Services
Australian Genomics Health Alliance Epilepsy Flagship
Victorian Clinical Genetics Services

Phenotypes

Neurodevelopmental disorder with absent language and variable seizures , MIM#618707

OMIM

Clinvar variants

Variants in WASF1

Penetrance

None

Publications

Panels with this gene

History Filter Activity

21 May 2024, Gel status: 3

Set Phenotypes

Ain Roesley (Victorian Clinical Genetics Services)

Phenotypes for gene: WASF1 were changed from Neurodevelopmental disorder with absent language and variable seizures , MIM#618707 to Neurodevelopmental disorder with absent language and variable seizures , MIM#618707

21 May 2024, Gel status: 3

Set publications

Ain Roesley (Victorian Clinical Genetics Services)

Publications for gene: WASF1 were set to 29961568; 34845217; 34478686; 34356165

21 May 2024, Gel status: 3

Entity classified by Genomics England curator

Ain Roesley (Victorian Clinical Genetics Services)

Gene: wasf1 has been classified as Green List (High Evidence).

21 May 2024, Gel status: 3

Set Phenotypes

Ain Roesley (Victorian Clinical Genetics Services)

Phenotypes for gene: WASF1 were changed from Neurodevelopmental disorder with absent language and variable seizures , MIM#618707 to Neurodevelopmental disorder with absent language and variable seizures , MIM#618707

21 May 2024, Gel status: 3

Set Phenotypes

Ain Roesley (Victorian Clinical Genetics Services)

Phenotypes for gene: WASF1 were changed from to Neurodevelopmental disorder with absent language and variable seizures , MIM#618707

21 May 2024, Gel status: 3

Set publications

Ain Roesley (Victorian Clinical Genetics Services)

Publications for gene: WASF1 were set to

21 May 2024, Gel status: 3

Set mode of inheritance

Ain Roesley (Victorian Clinical Genetics Services)

Mode of inheritance for gene: WASF1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

21 May 2024, Gel status: 3

Set mode of inheritance

Ain Roesley (Victorian Clinical Genetics Services)

Mode of inheritance for gene: WASF1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

21 May 2024, Gel status: 3

Set mode of inheritance

Ain Roesley (Victorian Clinical Genetics Services)

Mode of inheritance for gene: WASF1 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: WASF1 was added gene: WASF1 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: WASF1 was set to Unknown