WDR81 Chromosome 17
WD repeat domain 81
Upload your DNA to see your personal genotypes for variants in WDR81.
What This Gene Does
This gene encodes a multi-domain transmembrane protein which is predominantly expressed in the brain and is thought to play a role in endolysosomal trafficking. Mutations in this gene are associated with an autosomal recessive form of a syndrome exhibiting cerebellar ataxia, cognitive disability, and disequilibrium (CAMRQ2). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2017]
Gene Info
Gene Group
"WD repeat domain containing|Protein phosphatase 1 regulatory subunits|BEACH domain containing |Armadillo like helical domain containing"
Locus Type
gene with protein product
Location
17p13.3
Ensembl
ENSG00000167716
Associated Conditions (14)
Inborn genetic diseases
WDR81-related disorder
Hydrocephalus
congenital
3
with brain anomalies
Cerebellar ataxia
intellectual disability
and dysequilibrium syndrome 2
Hydranencephaly
Neonatal death
Severe brain malformation
Severe cerebellar hypoplasia
Microlissencephaly
Key Variants
RS137952560
Conflicting classifications of pathogenicity
Inborn genetic diseases, WDR81-related disorder, Inborn genetic diseases
Health Risk
RS138211651
Conflicting classifications of pathogenicity
Health Risk
RS138488179
Conflicting classifications of pathogenicity
Health Risk
RS139795210
Conflicting classifications of pathogenicity
WDR81-related disorder, WDR81-related disorder
Health Risk
RS1457395294
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS147625451
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS149766340
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS151330612
Conflicting classifications of pathogenicity
Hydrocephalus, congenital, 3
Health Risk
RS369748157
Conflicting classifications of pathogenicity
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2
Health Risk
RS545456101
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS748793270
Conflicting classifications of pathogenicity
Hydrocephalus, congenital, 3
Health Risk
RS928788426
Conflicting classifications of pathogenicity
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2
Health Risk
All Variants (39)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS137952560 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, WDR81-related disorder, Inborn genetic diseases |
| RS138211651 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS138488179 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS139795210 | Health Risk | Conflicting classifications of pathogenicity | WDR81-related disorder, WDR81-related disorder |
| RS1457395294 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS147625451 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS149766340 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS151330612 | Health Risk | Conflicting classifications of pathogenicity | Hydrocephalus, congenital, 3 |
| RS369748157 | Health Risk | Conflicting classifications of pathogenicity | Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 |
| RS545456101 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS748793270 | Health Risk | Conflicting classifications of pathogenicity | Hydrocephalus, congenital, 3 |
| RS928788426 | Health Risk | Conflicting classifications of pathogenicity | Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 |
| RS114510541 | Health Risk | Likely pathogenic | — |
| RS1193442920 | Health Risk | Likely pathogenic | — |
| RS1194329020 | Health Risk | Likely pathogenic | Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 |
| RS1200455844 | Health Risk | Likely pathogenic | — |
| RS1353464242 | Health Risk | Likely pathogenic | Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 |
| RS1555562577 | Health Risk | Likely pathogenic | — |
| RS1567718875 | Health Risk | Likely pathogenic | — |
| RS1567719594 | Health Risk | Likely pathogenic | — |
| RS2151177215 | Health Risk | Likely pathogenic | — |
| RS2543908886 | Health Risk | Likely pathogenic | WDR81-related disorder, WDR81-related disorder |
| RS2543921856 | Health Risk | Likely pathogenic | Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 |
| RS730882206 | Health Risk | Likely pathogenic | Hydranencephaly, Neonatal death, Severe brain malformation |
| RS762005729 | Health Risk | Likely pathogenic | Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 |
| RS779405050 | Health Risk | Likely pathogenic | WDR81-related disorder, WDR81-related disorder |
| RS1057524638 | Health Risk | Pathogenic | — |
| RS1064796183 | Health Risk | Pathogenic | — |
| RS1250268669 | Health Risk | Pathogenic | Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 |
| RS1470681435 | Health Risk | Pathogenic | — |
| RS1485459176 | Health Risk | Pathogenic | — |
| RS2543870620 | Health Risk | Pathogenic | — |
| RS762607878 | Health Risk | Pathogenic | Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 |
| RS770279237 | Health Risk | Pathogenic | Hydrocephalus, congenital, 3 |
| RS771116788 | Health Risk | Pathogenic | Microlissencephaly, Microlissencephaly |
| RS138358708 | Health Risk | Pathogenic/Likely pathogenic | Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 |
| RS1484029774 | Health Risk | Pathogenic/Likely pathogenic | Hydrocephalus, congenital, 3 |
| RS2151169266 | Health Risk | Pathogenic/Likely pathogenic | Hydrocephalus, congenital, 3 |
| RS587776906 | Health Risk | Pathogenic/Likely pathogenic | Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 |