WDR45B Chromosome 17
WD repeat domain 45B
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What This Gene Does
This gene encodes a member of the WIPI or SVP1 family of WD40 repeat-containing proteins. The protein contains seven WD40 repeats that are thought to fold into a beta-propeller structure that mediates protein-protein interactions, and a conserved motif for interaction with phospholipids. The human genome contains several pseudogenes of this gene. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"WD repeat domain containing|WIPI family"
Locus Type
gene with protein product
Location
17q25.3
Ensembl
ENSG00000141580
Associated Conditions (2)
Inborn genetic diseases
Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures
Key Variants
RS2143251700
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1391857942
Likely pathogenic
Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures
Health Risk
RS786205510
Likely pathogenic
Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures
Health Risk
RS1555647262
Pathogenic
Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures
Health Risk
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2143251700 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1391857942 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures |
| RS786205510 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures |
| RS1555647262 | Health Risk | Pathogenic | Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures |