Ear malformation: genes and variants

Genes linked to Ear malformation

• MYO15A: Unconventional myosin-XV

  An actin-based motor protein needed to build and maintain the stereocilia of inner-ear hair cells. Variants can cause severe nonsyndromic hearing loss.

  1 ClinVar pathogenic / likely pathogenic and 1 uncertain variants in MYO15A have source records linked to Ear malformation. Association strength is not clinical gene validity.

• MYO7A: Unconventional myosin-VIIa

  Its actin-based motor supports stereocilia organization in inner-ear hair cells and transport processes in retinal cells. Biallelic pathogenic variants cause Usher syndrome type 1B, while other alleles can cause nonsyndromic hearing loss.

  1 ClinVar pathogenic / likely pathogenic and 0 uncertain variants in MYO7A have source records linked to Ear malformation. Association strength is not clinical gene validity.

• TECTA: Alpha-tectorin

  Its extracellular matrix organizes the tectorial membrane that mechanically couples sound-induced motion to cochlear hair cells. Dominant or recessive pathogenic variants cause nonsyndromic hearing loss, with characteristic frequency patterns depending on the affected region.

  1 ClinVar pathogenic / likely pathogenic and 1 uncertain variants in TECTA have source records linked to Ear malformation. Association strength is not clinical gene validity.

• USH2A: Usherin

  It helps organize extracellular and membrane structures required for cochlear hair-cell and photoreceptor function. Biallelic pathogenic variants cause Usher syndrome type 2A or nonsyndromic retinitis pigmentosa and can also produce isolated hearing loss.

  0 ClinVar pathogenic / likely pathogenic and 0 uncertain variants in USH2A have source records linked to Ear malformation. Association strength is not clinical gene validity.

ClinVar pathogenic and likely pathogenic variants linked to Ear malformation

Same protein, different disease

• Autosomal recessive nonsyndromic hearing loss 4 also has ClinVar records linked to MYO15A variants; they fall mostly in different places as the Ear malformation variants (57 pathogenic / likely pathogenic).
• Rare genetic deafness also has ClinVar records linked to MYO15A variants; they fall mostly in different places as the Ear malformation variants (5 pathogenic / likely pathogenic).
• Nonsyndromic genetic hearing loss also has ClinVar records linked to MYO15A variants; they fall mostly in different places as the Ear malformation variants (3 pathogenic / likely pathogenic).
• Usher syndrome also has ClinVar records linked to MYO7A variants; they fall mostly in different places as the Ear malformation variants (80 pathogenic / likely pathogenic).
• Autosomal recessive nonsyndromic hearing loss 4 also has ClinVar records linked to MYO7A variants; they fall mostly in different places as the Ear malformation variants (26 pathogenic / likely pathogenic).
• Rare genetic deafness also has ClinVar records linked to MYO7A variants; they fall mostly in different places as the Ear malformation variants (23 pathogenic / likely pathogenic).
• Autosomal dominant nonsyndromic hearing loss also has ClinVar records linked to MYO7A variants; they fall mostly in different places as the Ear malformation variants (13 pathogenic / likely pathogenic).
• Hearing loss also has ClinVar records linked to MYO7A variants; they fall mostly in different places as the Ear malformation variants (4 pathogenic / likely pathogenic).
• Autosomal dominant nonsyndromic hearing loss also has ClinVar records linked to TECTA variants; they fall mostly in different places as the Ear malformation variants (15 pathogenic / likely pathogenic).
• Rare genetic deafness also has ClinVar records linked to TECTA variants; they fall mostly in different places as the Ear malformation variants (3 pathogenic / likely pathogenic).

Diseases related to Ear malformation

• Rare genetic deafness, also linked to MYO15A, MYO7A, TECTA and USH2A
• Autosomal recessive nonsyndromic hearing loss 4, also linked to MYO15A, MYO7A and TECTA
• Nonsyndromic genetic hearing loss, also linked to MYO15A, MYO7A and TECTA
• Hearing loss, also linked to MYO15A, MYO7A and TECTA
• Monogenic hearing loss, also linked to MYO15A, MYO7A and TECTA
• Deafness, also linked to MYO15A, MYO7A and TECTA
• Retinitis pigmentosa, also linked to MYO7A and USH2A
• Usher syndrome, also linked to MYO7A and USH2A
• Autosomal dominant nonsyndromic hearing loss, also linked to MYO7A and TECTA
• Cone rod dystrophy, also linked to USH2A
• Auditory neuropathy, also linked to MYO7A
• Retinal disorder, also linked to USH2A

Frequently asked questions

Which genes have records linked to Ear malformation?

This view contains 4 analyzed proteins: MYO15A, MYO7A, TECTA, USH2A. Links come from clinical records and association databases. They do not imply that every listed gene is a validated cause, and missing genes may not yet be analyzed.

What do the clinical classifications mean?

Linked records include 3 pathogenic or likely pathogenic variants, 1 variants of uncertain significance and 1 with conflicting classifications. Labels summarize source records; multi-condition records may not make a separate assertion for this disease. Check the original record and review status.

Does the evidence score change a VUS classification?

No. 0 VUS or conflicting variants reach the likely-pathogenic points range on the computable criteria available here. This is a research prioritization signal, not a clinical classification. Patient, family and other required evidence may be missing.

Can I download the variant evidence?

Download the CSV for all 7 variants in the selected disease scope, including clinical labels, review status, evidence criteria, predictor scores, functional measurements and population frequency where available.

About this data

Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from eligible public CATVariant analyses of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.

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