WDR1 Chromosome 4
WD repeat domain 1
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What This Gene Does
This gene encodes a protein containing 9 WD repeats. WD repeats are approximately 30- to 40-amino acid domains containing several conserved residues, mostly including a trp-asp at the C-terminal end. WD domains are involved in protein-protein interactions. The encoded protein may help induce the disassembly of actin filaments. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"WD repeat domain containing|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
4p16.1
Ensembl
ENSG00000071127
Associated Conditions (4)
WDR1-related disorder
Inborn genetic diseases
Lazy leukocyte syndrome
Intellectual developmental disorder 61
Key Variants
RS182603736
Conflicting classifications of pathogenicity
WDR1-related disorder, WDR1-related disorder
Health Risk
RS368255182
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS374886428
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS376269740
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS539736116
Conflicting classifications of pathogenicity
Inborn genetic diseases, Lazy leukocyte syndrome, Inborn genetic diseases
Health Risk
RS1711679334
Pathogenic
Lazy leukocyte syndrome, Lazy leukocyte syndrome
Health Risk
RS1712442528
Pathogenic
Lazy leukocyte syndrome, Lazy leukocyte syndrome
Health Risk
RS1712445918
Pathogenic
Intellectual developmental disorder 61, Intellectual developmental disorder 61
Health Risk
RS1712525349
Pathogenic
Lazy leukocyte syndrome, Lazy leukocyte syndrome
Health Risk
RS1713714520
Pathogenic
Lazy leukocyte syndrome, Lazy leukocyte syndrome
Health Risk
RS1764766492
Pathogenic
Lazy leukocyte syndrome, Lazy leukocyte syndrome
Health Risk
RS769254295
Pathogenic
Lazy leukocyte syndrome, Lazy leukocyte syndrome
Health Risk
All Variants (13)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS182603736 | Health Risk | Conflicting classifications of pathogenicity | WDR1-related disorder, WDR1-related disorder |
| RS368255182 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS374886428 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS376269740 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS539736116 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Lazy leukocyte syndrome, Inborn genetic diseases |
| RS1711679334 | Health Risk | Pathogenic | Lazy leukocyte syndrome, Lazy leukocyte syndrome |
| RS1712442528 | Health Risk | Pathogenic | Lazy leukocyte syndrome, Lazy leukocyte syndrome |
| RS1712445918 | Health Risk | Pathogenic | Intellectual developmental disorder 61, Intellectual developmental disorder 61 |
| RS1712525349 | Health Risk | Pathogenic | Lazy leukocyte syndrome, Lazy leukocyte syndrome |
| RS1713714520 | Health Risk | Pathogenic | Lazy leukocyte syndrome, Lazy leukocyte syndrome |
| RS1764766492 | Health Risk | Pathogenic | Lazy leukocyte syndrome, Lazy leukocyte syndrome |
| RS769254295 | Health Risk | Pathogenic | Lazy leukocyte syndrome, Lazy leukocyte syndrome |
| RS771058795 | Health Risk | Pathogenic | Lazy leukocyte syndrome, Lazy leukocyte syndrome |