WDR26 Chromosome 1
WD repeat domain 26
Upload your DNA to see your personal genotypes for variants in WDR26.
What This Gene Does
This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. Two transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"WD repeat domain containing|CTLH complex subunits|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
1q42.11-q42.12
Ensembl
ENSG00000162923
Associated Conditions (7)
WDR26-related disorder
Skraban-Deardorff syndrome
See cases
Inborn genetic diseases
Intellectual disability
seizures
abnormal gait and distinctive facial features
Key Variants
RS1417677519
Conflicting classifications of pathogenicity
Health Risk
RS1673967254
Conflicting classifications of pathogenicity
WDR26-related disorder, WDR26-related disorder
Health Risk
RS1674395504
Conflicting classifications of pathogenicity
Skraban-Deardorff syndrome, Skraban-Deardorff syndrome
Health Risk
RS2102912811
Conflicting classifications of pathogenicity
Health Risk
RS2102919542
Conflicting classifications of pathogenicity
Skraban-Deardorff syndrome, Skraban-Deardorff syndrome
Health Risk
RS1553354952
Likely pathogenic
Skraban-Deardorff syndrome, Skraban-Deardorff syndrome
Health Risk
RS1553354956
Likely pathogenic
Skraban-Deardorff syndrome, Skraban-Deardorff syndrome
Health Risk
RS1572168244
Likely pathogenic
Skraban-Deardorff syndrome, Skraban-Deardorff syndrome
Health Risk
RS1673333616
Likely pathogenic
Skraban-Deardorff syndrome, Skraban-Deardorff syndrome
Health Risk
RS1674398801
Likely pathogenic
Health Risk
RS2102897778
Likely pathogenic
Skraban-Deardorff syndrome, Skraban-Deardorff syndrome
Health Risk
RS2102905325
Likely pathogenic
Skraban-Deardorff syndrome, Skraban-Deardorff syndrome
Health Risk
All Variants (54)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2464743563 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2464762597 | Health Risk | Pathogenic | Skraban-Deardorff syndrome, Skraban-Deardorff syndrome |
| RS2464784089 | Health Risk | Pathogenic | Skraban-Deardorff syndrome, Skraban-Deardorff syndrome |
| RS1673189476 | Health Risk | Pathogenic/Likely pathogenic | Skraban-Deardorff syndrome, Skraban-Deardorff syndrome |