DHX30

Chr 3AD

DExH-box helicase 30

Also known as: DDX30, NEDMIAL, RETCOR

NCBI Gene: 22907 ENSG00000132153 UniProt: Q7L2E3 OMIM: 616423

DHX30 encodes an RNA-dependent helicase that plays an important role in mitochondrial large ribosomal subunit assembly and associates with mitochondrial DNA. Mutations cause neurodevelopmental disorder with variable motor and speech impairment through autosomal dominant inheritance. The gene is highly constrained against loss-of-function variants (pLI = 1.0, LOEUF = 0.115), indicating intolerance to protein-disrupting mutations.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

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]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Neurodevelopmental disorder with variable motor and speech impairmentMIM #617804

Clinical highlights

Gene-disease validity (ClinGen)

neurodevelopmental disorder with severe motor impairment and absent language · ADDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.12

LOEUF· LoF intol.

Multiple*

Mechanism· predicted