WASF1 Chromosome 6
WASP family member 1
Upload your DNA to see your personal genotypes for variants in WASF1.
What This Gene Does
The protein encoded by this gene, a member of the Wiskott-Aldrich syndrome protein (WASP)-family, plays a critical role downstream of Rac, a Rho-family small GTPase, in regulating the actin cytoskeleton required for membrane ruffling. It has been shown to associate with an actin nucleation core Arp2/3 complex while enhancing actin polymerization in vitro. Wiskott-Aldrich syndrome is a disease of the immune system, likely due to defects in regulation of actin cytoskeleton. Multiple alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Wiskott-Aldrich Syndrome protein family|A-kinase anchoring proteins|SCAR/WAVE complex"
Locus Type
gene with protein product
Location
6q21
Ensembl
ENSG00000112290
Associated Conditions (5)
WASF1-related disorder
Neurodevelopmental disorder with absent language and variable seizures
Intellectual disability
Epileptic encephalopathy
Inborn genetic diseases
Key Variants
RS142151316
Conflicting classifications of pathogenicity
WASF1-related disorder, Neurodevelopmental disorder with absent language and variable seizures, WASF1-related disorder
Health Risk
RS2114445929
Likely pathogenic
Neurodevelopmental disorder with absent language and variable seizures, Neurodevelopmental disorder with absent language and variable seizures
Health Risk
RS2114446436
Likely pathogenic
Health Risk
RS778229060
Likely pathogenic
Intellectual disability, Intellectual disability
Health Risk
RS1562159088
Pathogenic
Intellectual disability, Epileptic encephalopathy, Neurodevelopmental disorder with absent language and variable seizures
Health Risk
RS1562159562
Pathogenic
Intellectual disability, Neurodevelopmental disorder with absent language and variable seizures, Inborn genetic diseases
Health Risk
RS1562159599
Pathogenic
Intellectual disability, Neurodevelopmental disorder with absent language and variable seizures, Intellectual disability
Health Risk
RS2534211115
Pathogenic
Neurodevelopmental disorder with absent language and variable seizures, Neurodevelopmental disorder with absent language and variable seizures
Health Risk
RS2534225978
Pathogenic
Neurodevelopmental disorder with absent language and variable seizures, Neurodevelopmental disorder with absent language and variable seizures
Health Risk
RS2534240781
Pathogenic
Neurodevelopmental disorder with absent language and variable seizures, Neurodevelopmental disorder with absent language and variable seizures
Health Risk
All Variants (10)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS142151316 | Health Risk | Conflicting classifications of pathogenicity | WASF1-related disorder, Neurodevelopmental disorder with absent language and variable seizures, WASF1-related disorder |
| RS2114445929 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with absent language and variable seizures, Neurodevelopmental disorder with absent language and variable seizures |
| RS2114446436 | Health Risk | Likely pathogenic | — |
| RS778229060 | Health Risk | Likely pathogenic | Intellectual disability, Intellectual disability |
| RS1562159088 | Health Risk | Pathogenic | Intellectual disability, Epileptic encephalopathy, Neurodevelopmental disorder with absent language and variable seizures |
| RS1562159562 | Health Risk | Pathogenic | Intellectual disability, Neurodevelopmental disorder with absent language and variable seizures, Inborn genetic diseases |
| RS1562159599 | Health Risk | Pathogenic | Intellectual disability, Neurodevelopmental disorder with absent language and variable seizures, Intellectual disability |
| RS2534211115 | Health Risk | Pathogenic | Neurodevelopmental disorder with absent language and variable seizures, Neurodevelopmental disorder with absent language and variable seizures |
| RS2534225978 | Health Risk | Pathogenic | Neurodevelopmental disorder with absent language and variable seizures, Neurodevelopmental disorder with absent language and variable seizures |
| RS2534240781 | Health Risk | Pathogenic | Neurodevelopmental disorder with absent language and variable seizures, Neurodevelopmental disorder with absent language and variable seizures |