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Intellectual disability syndromic and non-syndromic

Gene: WASF1

Green List (high evidence)

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

3 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

More than 10 unrelated individuals reported.
Created: 13 May 2022, 9:10 a.m. | Last Modified: 13 May 2022, 9:10 a.m.
Panel Version: 0.4768

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Publications

Chris Richmond (Genetic Health Queensland)

Green List (high evidence)

Case series of 5 unrelated individuals
Created: 5 Dec 2019, 5:29 a.m. | Last Modified: 5 Dec 2019, 5:29 a.m.
Panel Version: 0.175

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
intellectual disability; seizures

Publications

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

5 unrelated individuals with moderate to profound intellectual disability with autistic features and seizures. Functional studies using fibroblast cells from two affected individuals showed a truncated WASF1 and a defect in actin remodeling.
Created: 4 Dec 2019, 10:35 p.m. | Last Modified: 4 Dec 2019, 10:35 p.m.
Panel Version: 0.362
Sources: Expert list
Created: 4 Dec 2019, 10:34 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
No OMIM phenotype # yet.

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Neurodevelopmental disorder with absent language and variable seizures , MIM#618707
OMIM
605035
Clinvar variants
Variants in WASF1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 May 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

13 May 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: WASF1 were set to PMID: 29961568

10 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

4 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

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

4 Dec 2019, Gel status: 1

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

Chirag Patel (Genetic Health Queensland)

gene: WASF1 was added gene: WASF1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert list Mode of inheritance for gene: WASF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: WASF1 were set to PMID: 29961568 Review for gene: WASF1 was set to GREEN