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Features include always present findings: Delayed speech and language development and Inner ear hearing loss (sensorineural hearing impairment). 4 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Ears | 2 | Abnormal vestibular function, Inner ear hearing loss (sensorineural hearing impairment) |
GAS2 encodes growth arrest specific 2 (313 aa). Required to maintain microtubule bundles in inner ear supporting cells, affording them with mechanical stiffness to transmit sound energy through the cochlea Highest expression in Brain Spinal cord cervical c-1 (8.8 TPM) and Liver (8.5 TPM).
Hearing loss, autosomal recessive 125 is associated with mutations in the GAS2 gene on chromosome 11.
GAS2 is classified as a druggable target (Tumor Suppressor category) with score 1.0.
Genetic testing for GAS2 is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 2 always present features.
No clinical trials have been registered for hearing loss, autosomal recessive 125.
5 publications have been identified in PubMed for hearing loss, autosomal recessive 125. Research spans Review / Meta-Analysis (60%), Basic Science / Preclinical (20%), and Epidemiology / Natural History (20%).
Kirwin DA (2026). [PMID: 41854963](https://pubmed.ncbi.nlm.nih.gov/41854963/). *J Assoc Res Otolaryngol*. [Review / Meta-Analysis]
Elbagoury NM (2025). [PMID: 40858759](https://pubmed.ncbi.nlm.nih.gov/40858759/). *Eur J Pediatr*. [Review / Meta-Analysis]
Cheng H (2025). [PMID: 40089864](https://pubmed.ncbi.nlm.nih.gov/40089864/). *Adv Sci (Weinh)*. [Basic Science / Preclinical]
Mendes Ferreira V (2025). [PMID: 40064796](https://pubmed.ncbi.nlm.nih.gov/40064796/). *Acta neurologica Belgica*. [Review / Meta-Analysis]
Guo L (2025). [PMID: 40886188](https://pubmed.ncbi.nlm.nih.gov/40886188/). *Molecular genetics and genomics : MGG*. [Epidemiology / Natural History]
Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 9:40 PM UTC
Online Mendelian Inheritance in Man
Brain and nerves
1 |
Delayed speech and language development |
Head and neck | 1 | Abnormal facial shape |