DDX6 Chromosome 11
DEAD-box helicase 6
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What This Gene Does
This gene encodes a member of the DEAD box protein family. The protein is an RNA helicase found in P-bodies and stress granules, and functions in translation suppression and mRNA degradation. It is required for microRNA-induced gene silencing. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Mar 2012]
Gene Info
Gene Group
DEAD-box helicases
Locus Type
gene with protein product
Location
11q23.3
Ensembl
ENSG00000110367
Associated Conditions (2)
Intellectual developmental disorder with impaired language and dysmorphic facies
Inborn genetic diseases
Key Variants
RS782274778
Conflicting classifications of pathogenicity
Intellectual developmental disorder with impaired language and dysmorphic facies, Inborn genetic diseases, Intellectual developmental disorder with impaired language and dysmorphic facies
Health Risk
RS2501296630
Likely pathogenic
Intellectual developmental disorder with impaired language and dysmorphic facies, Intellectual developmental disorder with impaired language and dysmorphic facies
Health Risk
RS1591885290
Pathogenic
Intellectual developmental disorder with impaired language and dysmorphic facies, Intellectual developmental disorder with impaired language and dysmorphic facies
Health Risk
RS1591885297
Pathogenic
Intellectual developmental disorder with impaired language and dysmorphic facies, Intellectual developmental disorder with impaired language and dysmorphic facies
Health Risk
RS1591885305
Pathogenic
Intellectual developmental disorder with impaired language and dysmorphic facies, Intellectual developmental disorder with impaired language and dysmorphic facies
Health Risk
RS1591885383
Pathogenic
Intellectual developmental disorder with impaired language and dysmorphic facies, Intellectual developmental disorder with impaired language and dysmorphic facies
Health Risk
RS1591885401
Pathogenic
Intellectual developmental disorder with impaired language and dysmorphic facies, Intellectual developmental disorder with impaired language and dysmorphic facies
Health Risk
RS1860933779
Pathogenic/Likely pathogenic
Intellectual developmental disorder with impaired language and dysmorphic facies, Intellectual developmental disorder with impaired language and dysmorphic facies
Health Risk
All Variants (8)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS782274778 | Health Risk | Conflicting classifications of pathogenicity | Intellectual developmental disorder with impaired language and dysmorphic facies, Inborn genetic diseases, Intellectual developmental disorder with impaired language and dysmorphic facies |
| RS2501296630 | Health Risk | Likely pathogenic | Intellectual developmental disorder with impaired language and dysmorphic facies, Intellectual developmental disorder with impaired language and dysmorphic facies |
| RS1591885290 | Health Risk | Pathogenic | Intellectual developmental disorder with impaired language and dysmorphic facies, Intellectual developmental disorder with impaired language and dysmorphic facies |
| RS1591885297 | Health Risk | Pathogenic | Intellectual developmental disorder with impaired language and dysmorphic facies, Intellectual developmental disorder with impaired language and dysmorphic facies |
| RS1591885305 | Health Risk | Pathogenic | Intellectual developmental disorder with impaired language and dysmorphic facies, Intellectual developmental disorder with impaired language and dysmorphic facies |
| RS1591885383 | Health Risk | Pathogenic | Intellectual developmental disorder with impaired language and dysmorphic facies, Intellectual developmental disorder with impaired language and dysmorphic facies |
| RS1591885401 | Health Risk | Pathogenic | Intellectual developmental disorder with impaired language and dysmorphic facies, Intellectual developmental disorder with impaired language and dysmorphic facies |
| RS1860933779 | Health Risk | Pathogenic/Likely pathogenic | Intellectual developmental disorder with impaired language and dysmorphic facies, Intellectual developmental disorder with impaired language and dysmorphic facies |