DMXL2 Chromosome 15
Dmx like 2
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What This Gene Does
This gene encodes a protein with 12 WD domains. Proteins with WD domains are involved in many functions including participation in signal transduction pathways. Participation of the encoded protein in regulation of the Notch signaling pathway has been demonstrated in vitro using several human cell lines (PMID:20810660). A gene encoding a similar protein is located on chromosome 5. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]
Gene Info
Gene Group
WD repeat domain containing
Locus Type
gene with protein product
Location
15q21.2
Ensembl
ENSG00000104093
Associated Conditions (11)
Autism spectrum disorder
Inborn genetic diseases
DMXL2-related disorder
Developmental and epileptic encephalopathy
81
Polyendocrine-polyneuropathy syndrome
Hearing loss
autosomal dominant 71
Nonsyndromic genetic hearing loss
See cases
Acute myeloid leukemia
Key Variants
RS1416564508
association
Autism spectrum disorder, Autism spectrum disorder
Health Risk
RS117017152
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS138394487
Conflicting classifications of pathogenicity
Inborn genetic diseases, DMXL2-related disorder, Developmental and epileptic encephalopathy
Health Risk
RS139139263
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS143319761
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS143850714
Conflicting classifications of pathogenicity
Inborn genetic diseases, DMXL2-related disorder, Inborn genetic diseases
Health Risk
RS145006217
Conflicting classifications of pathogenicity
Hearing loss, autosomal dominant 71, Hearing loss
Health Risk
RS148766950
Conflicting classifications of pathogenicity
Inborn genetic diseases, DMXL2-related disorder, Nonsyndromic genetic hearing loss
Health Risk
RS149028181
Conflicting classifications of pathogenicity
Hearing loss, autosomal dominant 71, Hearing loss
Health Risk
RS149842282
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS182672196
Conflicting classifications of pathogenicity
Health Risk
RS199806210
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
All Variants (68)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2548425461 | Health Risk | Pathogenic | — |
| RS2548431739 | Health Risk | Pathogenic | — |
| RS2548473723 | Health Risk | Pathogenic | — |
| RS2548494696 | Health Risk | Pathogenic | — |
| RS2548508883 | Health Risk | Pathogenic | — |
| RS2548554072 | Health Risk | Pathogenic | — |
| RS2548554154 | Health Risk | Pathogenic | — |
| RS2548611381 | Health Risk | Pathogenic | — |
| RS2548614345 | Health Risk | Pathogenic | — |
| RS2548642688 | Health Risk | Pathogenic | — |
| RS2548705861 | Health Risk | Pathogenic | — |
| RS372749193 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 81, Developmental and epileptic encephalopathy |
| RS752363479 | Health Risk | Pathogenic | — |
| RS752984947 | Health Risk | Pathogenic | — |
| RS772456119 | Health Risk | Pathogenic | — |
| RS777271861 | Health Risk | Pathogenic | — |
| RS1325372369 | Health Risk | Pathogenic/Likely pathogenic | DMXL2-related disorder, DMXL2-related disorder |
| RS762237782 | Health Risk | Pathogenic/Likely pathogenic | — |