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autosomal dominant nonsyndromic hearing loss 20 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

autosomal dominant nonsyndromic hearing loss 20

MONDO:0011480

Also known as:ACTG1 autosomal dominant nonsyndromic deafnessDFNA20DFNA26

Overview

Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the ACTG1 gene.

GeneticsAutosomal dominant · ACTG1 (chr 17)

Clinical Presentation

Features include: Bilateral sensorineural hearing impairment and Progressive sensorineural hearing impairment.

Organ System	Phenotype Count	Example Features
Ears	2	Bilateral sensorineural hearing impairment, Progressive sensorineural hearing impairment

Explore clinical features

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

ACTG1 encodes actin gamma 1 (375 aa). Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells.

Autosomal dominant nonsyndromic hearing loss 20 is associated with mutations in the ACTG1 gene on chromosome 17.

ACTG1 is classified as a druggable target with score 1.5.

59 pathogenic variants reported in ACTG1 in ClinVar, including hotspot variants 807364 and NP_001186883.1:p.Arg335Cys (2-star review).

Variant	Significance

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

Genetic testing for ACTG1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for autosomal dominant nonsyndromic hearing loss 20 has been reported in the published literature.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for autosomal dominant nonsyndromic hearing loss 20.

12 publications have been identified in PubMed for autosomal dominant nonsyndromic hearing loss 20. Research spans Case Report / Case Series (25%), Basic Science / Preclinical (25%), and Diagnostic / Biomarker (17%).

Research Type	Count	% of Total
Patient case studies	3	25%

Data assembled from 6 of 12 sources · Last updated Sep 18, 2026, 10:05 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:604717

GARD

Genetic and Rare Diseases Info Center

GARD:18111

Questions for Your Care Team

→Should I pursue genetic testing for ACTG1, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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autosomal dominant nonsyndromic hearing loss 20

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

Questions for Your Care Team

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