WDR62 Chromosome 19
WD repeat domain 62
Upload your DNA to see your personal genotypes for variants in WDR62.
What This Gene Does
This gene is proposed to play a role in cerebral cortical development. Mutations in this gene have been associated with microencephaly, cortical malformations, and cognitive disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2011]
Gene Info
Gene Group
WD repeat domain containing
Locus Type
gene with protein product
Location
19q13.12
Ensembl
ENSG00000075702
Associated Conditions (17)
Microcephaly 2
primary
autosomal recessive
with or without cortical malformations
WDR62-related disorder
Inborn genetic diseases
Clear cell carcinoma of kidney
Intellectual disability
Skraban-Deardorff syndrome
Abnormal cerebral morphology
Malignant tumor of esophagus
Ovarian serous cystadenocarcinoma
Autosomal recessive primary microcephaly
Squamous cell lung carcinoma
Abnormality of the nervous system
Primary microcephaly type 2
Abnormality of neuronal migration
Key Variants
RS111889921
Conflicting classifications of pathogenicity
Health Risk
RS112789274
Conflicting classifications of pathogenicity
Microcephaly 2, primary, autosomal recessive
Health Risk
RS1159993236
Conflicting classifications of pathogenicity
Microcephaly 2, primary, autosomal recessive
Health Risk
RS1174425209
Conflicting classifications of pathogenicity
Microcephaly 2, primary, autosomal recessive
Health Risk
RS117887683
Conflicting classifications of pathogenicity
Microcephaly 2, primary, autosomal recessive
Health Risk
RS1346976662
Conflicting classifications of pathogenicity
Health Risk
RS137919897
Conflicting classifications of pathogenicity
WDR62-related disorder, WDR62-related disorder
Health Risk
RS138814793
Conflicting classifications of pathogenicity
Microcephaly 2, primary, autosomal recessive
Health Risk
RS139371621
Conflicting classifications of pathogenicity
Health Risk
RS139460397
Conflicting classifications of pathogenicity
Microcephaly 2, primary, autosomal recessive
Health Risk
RS139749569
Conflicting classifications of pathogenicity
Microcephaly 2, primary, autosomal recessive
Health Risk
RS139946168
Conflicting classifications of pathogenicity
Microcephaly 2, primary, autosomal recessive
Health Risk
All Variants (193)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2145874989 | Health Risk | Pathogenic | Microcephaly 2, primary, autosomal recessive |
| RS2513392622 | Health Risk | Pathogenic | — |
| RS2513442799 | Health Risk | Pathogenic | — |
| RS2513454220 | Health Risk | Pathogenic | — |
| RS2513591753 | Health Risk | Pathogenic | Microcephaly 2, primary, autosomal recessive |
| RS2513630063 | Health Risk | Pathogenic | — |
| RS2513648734 | Health Risk | Pathogenic | Microcephaly 2, primary, autosomal recessive |
| RS2513649406 | Health Risk | Pathogenic | — |
| RS2513758387 | Health Risk | Pathogenic | Microcephaly 2, primary, autosomal recessive |
| RS2513777740 | Health Risk | Pathogenic | — |
| RS2513788270 | Health Risk | Pathogenic | Microcephaly 2, primary, autosomal recessive |
| RS267607176 | Health Risk | Pathogenic | Microcephaly 2, primary, autosomal recessive |
| RS267607177 | Health Risk | Pathogenic | Microcephaly 2, primary, autosomal recessive |
| RS369923535 | Health Risk | Pathogenic | Microcephaly 2, primary, autosomal recessive |
| RS376633424 | Health Risk | Pathogenic | — |
| RS387907083 | Health Risk | Pathogenic | Microcephaly 2, primary, autosomal recessive |
| RS387907084 | Health Risk | Pathogenic | Microcephaly 2, primary, autosomal recessive |
| RS397704721 | Health Risk | Pathogenic | Microcephaly 2, primary, autosomal recessive |
| RS397704725 | Health Risk | Pathogenic | Microcephaly 2, primary, autosomal recessive |
| RS587776899 | Health Risk | Pathogenic | Microcephaly 2, primary, autosomal recessive |
| RS587776900 | Health Risk | Pathogenic | Microcephaly 2, primary, autosomal recessive |
| RS587776901 | Health Risk | Pathogenic | Microcephaly 2, primary, autosomal recessive |
| RS587784546 | Health Risk | Pathogenic | Microcephaly 2, primary, autosomal recessive |
| RS587784549 | Health Risk | Pathogenic | Microcephaly 2, primary, autosomal recessive |
| RS587784553 | Health Risk | Pathogenic | Microcephaly 2, primary, autosomal recessive |
| RS587784556 | Health Risk | Pathogenic | — |
| RS750547223 | Health Risk | Pathogenic | — |
| RS754812284 | Health Risk | Pathogenic | — |
| RS754976942 | Health Risk | Pathogenic | Intellectual disability, Intellectual disability |
| RS757827840 | Health Risk | Pathogenic | WDR62-related disorder, WDR62-related disorder |
| RS764201220 | Health Risk | Pathogenic | Microcephaly 2, primary, autosomal recessive |
| RS767667321 | Health Risk | Pathogenic | Microcephaly 2, primary, autosomal recessive |
| RS769688376 | Health Risk | Pathogenic | Microcephaly 2, primary, autosomal recessive |
| RS775357840 | Health Risk | Pathogenic | Microcephaly 2, primary, autosomal recessive |
| RS863223322 | Health Risk | Pathogenic | Microcephaly 2, primary, autosomal recessive |
| RS863223377 | Health Risk | Pathogenic | Abnormality of neuronal migration, Abnormality of neuronal migration |
| RS886041863 | Health Risk | Pathogenic | — |
| RS1006898944 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Microcephaly 2, primary |
| RS1193422410 | Health Risk | Pathogenic/Likely pathogenic | Microcephaly 2, primary, autosomal recessive |
| RS199736219 | Health Risk | Pathogenic/Likely pathogenic | Microcephaly 2, primary, autosomal recessive |
| RS2145706114 | Health Risk | Pathogenic/Likely pathogenic | Microcephaly 2, primary, autosomal recessive |
| RS387907082 | Health Risk | Pathogenic/Likely pathogenic | Microcephaly 2, primary, autosomal recessive |
| RS747870811 | Health Risk | Pathogenic/Likely pathogenic | — |