DHX30 Chromosome 3
DExH-box helicase 30
Upload your DNA to see your personal genotypes for variants in DHX30.
What This Gene Does
DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. The family member encoded by this gene is a mitochondrial nucleoid protein that associates with mitochondrial DNA. It has also been identified as a component of a transcriptional repressor complex that functions in retinal development, and it is required to optimize the function of the zinc-finger antiviral protein. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Feb 2013]
Gene Info
Gene Group
"DEAH-box helicases|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
3p21.31
Ensembl
ENSG00000132153
Associated Conditions (11)
Neurodevelopmental disorder with severe motor impairment and absent language
Inborn genetic diseases
DHX30-related disorder
See cases
6 conditions
7 conditions
Autism
Intellectual disability
Abnormal cerebral white matter morphology
susceptiblity to
8 conditions
Key Variants
RS1553707019
Conflicting classifications of pathogenicity
Neurodevelopmental disorder with severe motor impairment and absent language, Neurodevelopmental disorder with severe motor impairment and absent language
Health Risk
RS2037707020
Conflicting classifications of pathogenicity
Inborn genetic diseases, Neurodevelopmental disorder with severe motor impairment and absent language, Inborn genetic diseases
Health Risk
RS373512059
Conflicting classifications of pathogenicity
Neurodevelopmental disorder with severe motor impairment and absent language, Inborn genetic diseases, Neurodevelopmental disorder with severe motor impairment and absent language
Health Risk
RS374425976
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS61757585
Conflicting classifications of pathogenicity
Neurodevelopmental disorder with severe motor impairment and absent language, Inborn genetic diseases, DHX30-related disorder
Health Risk
RS769576678
Conflicting classifications of pathogenicity
Neurodevelopmental disorder with severe motor impairment and absent language, Neurodevelopmental disorder with severe motor impairment and absent language
Health Risk
RS773595533
Conflicting classifications of pathogenicity
Neurodevelopmental disorder with severe motor impairment and absent language, Inborn genetic diseases, Neurodevelopmental disorder with severe motor impairment and absent language
Health Risk
RS1559723511
Likely pathogenic
Neurodevelopmental disorder with severe motor impairment and absent language, Neurodevelopmental disorder with severe motor impairment and absent language, Neurodevelopmental disorder with severe motor impairment and absent language
Health Risk
RS2549243181
Likely pathogenic
Health Risk
RS2549297131
Likely pathogenic
Health Risk
RS2549301563
Likely pathogenic
See cases, See cases
Health Risk
RS2549307285
Likely pathogenic
Health Risk
All Variants (21)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1553707019 | Health Risk | Conflicting classifications of pathogenicity | Neurodevelopmental disorder with severe motor impairment and absent language, Neurodevelopmental disorder with severe motor impairment and absent language |
| RS2037707020 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Neurodevelopmental disorder with severe motor impairment and absent language, Inborn genetic diseases |
| RS373512059 | Health Risk | Conflicting classifications of pathogenicity | Neurodevelopmental disorder with severe motor impairment and absent language, Inborn genetic diseases, Neurodevelopmental disorder with severe motor impairment and absent language |
| RS374425976 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS61757585 | Health Risk | Conflicting classifications of pathogenicity | Neurodevelopmental disorder with severe motor impairment and absent language, Inborn genetic diseases, DHX30-related disorder |
| RS769576678 | Health Risk | Conflicting classifications of pathogenicity | Neurodevelopmental disorder with severe motor impairment and absent language, Neurodevelopmental disorder with severe motor impairment and absent language |
| RS773595533 | Health Risk | Conflicting classifications of pathogenicity | Neurodevelopmental disorder with severe motor impairment and absent language, Inborn genetic diseases, Neurodevelopmental disorder with severe motor impairment and absent language |
| RS1559723511 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with severe motor impairment and absent language, Neurodevelopmental disorder with severe motor impairment and absent language, Neurodevelopmental disorder with severe motor impairment and absent language |
| RS2549243181 | Health Risk | Likely pathogenic | — |
| RS2549297131 | Health Risk | Likely pathogenic | — |
| RS2549301563 | Health Risk | Likely pathogenic | See cases, See cases |
| RS2549307285 | Health Risk | Likely pathogenic | — |
| RS1057519436 | Health Risk | Pathogenic | 6 conditions, Neurodevelopmental disorder with severe motor impairment and absent language, 6 conditions |
| RS1060499733 | Health Risk | Pathogenic | 7 conditions, Neurodevelopmental disorder with severe motor impairment and absent language, Autism |
| RS1303348930 | Health Risk | Pathogenic | Neurodevelopmental disorder with severe motor impairment and absent language, Neurodevelopmental disorder with severe motor impairment and absent language |
| RS1553706775 | Health Risk | Pathogenic | Neurodevelopmental disorder with severe motor impairment and absent language, Neurodevelopmental disorder with severe motor impairment and absent language |
| RS1576517675 | Health Risk | Pathogenic | Neurodevelopmental disorder with severe motor impairment and absent language, Neurodevelopmental disorder with severe motor impairment and absent language |
| RS2549295022 | Health Risk | Pathogenic | Autism, susceptiblity to, Autism |
| RS753242774 | Health Risk | Pathogenic | 8 conditions, Neurodevelopmental disorder with severe motor impairment and absent language, 8 conditions |
| RS1085307451 | Health Risk | Pathogenic/Likely pathogenic | Neurodevelopmental disorder with severe motor impairment and absent language, Inborn genetic diseases, Neurodevelopmental disorder with severe motor impairment and absent language |
| RS1553706799 | Health Risk | Pathogenic/Likely pathogenic | Neurodevelopmental disorder with severe motor impairment and absent language, Inborn genetic diseases, Neurodevelopmental disorder with severe motor impairment and absent language |