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Epileptic encephalopathy

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

2 reviews

Sarah Leigh (Genomics England Curator)

Comment on mode of pathogenicity: Although the authors have suggested that the underlying disease mechanism is a gain-of-function or dominant-negative, the mode of pathogenicity has not been listed as such for this gene within PanelApp as the variants are all truncating and so will be identified using the loss of function criteria.
16 Jul 2018, 9:06 a.m.

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

From Ito Y, et al (2018) PMID: 29961568 Identified de novo heterozygous truncating variants in WASF1 that caused a Neurodevelopmental disorder in individuals with Intellectual Disability associated with autistic features, seizures, and developmental delay. The three de novo variants, identified in five unrelated affected individuals from non-consanguineous families and are unrelated, are all predicted to affect the actin-binding C-terminal WCA region of WASF1. The clustering of truncating pathogenic variants reported here and the presence of a truncated protein in cells from affected individuals imply either a gain-of-function or dominant-negative mechanism of disease. The three mutations were c.1516C>T (p.Arg506Ter), which occurred in three unrelated individuals, c.1558C>T (p.Gln520Ter), and c.1482delinsGCCAGG (p.Ile494MetfsTer23). All three variants are predicted to partially or fully disrupt the C-terminal actin-binding WCA domain. Functional studies using fibroblast cells from two affected individuals with the c.1516C>T mutation showed a truncated WASF1 and a defect in actin remodeling. The study provides evidence that de novo heterozygous mutations in WASF1 cause a rare form of intellectual disability.
5 Jul 2018, 8:53 a.m.

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

Phenotypes
ID associated with autistic features, seizures, and developmental delay; intellectual disability

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • ID associated with autistic features, seizures, and developmental delay
  • intellectual disability
OMIM
605035
Clinvar variants
Variants in WASF1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Jul 2018, Gel status: 3

Set mode of pathogenicity

Sarah Leigh (Genomics England Curator)

Mode of pathogenicity for gene: WASF1 was changed to None

5 Jul 2018, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

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

5 Jul 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

WASF1 was added to Epileptic encephalopathy panel. Sources: Literature

5 Jul 2018, Gel status: 1

Created

Louise Daugherty (Genomics England Curator)

WASF1 was created by Louise Daugherty