MYO15A Chromosome 17
Myosin XVA
Upload your DNA to see your personal genotypes for variants in MYO15A.
What This Gene Does
This gene encodes an unconventional myosin. This protein differs from other myosins in that it has a long N-terminal extension preceding the conserved motor domain. Studies in mice suggest that this protein is necessary for actin organization in the hair cells of the cochlea. Mutations in this gene have been associated with profound, congenital, neurosensory, nonsyndromal deafness. This gene is located within the Smith-Magenis syndrome region on chromosome 17. Read-through transcripts containing an upstream gene and this gene have been identified, but they are not thought to encode a fusion protein. Several alternatively spliced transcript variants have been described, but their full length sequences have not been determined. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Myosin heavy chains, class XV|FERM domain containing"
Locus Type
gene with protein product
Location
17p11.2
Ensembl
ENSG00000091536
Associated Conditions (20)
Autosomal recessive nonsyndromic hearing loss 3
Hearing loss
autosomal recessive
Inborn genetic diseases
MYO15A-related disorder
Hearing impairment
Childhood onset hearing loss
Acute myeloid leukemia
Congenital sensorineural hearing impairment
Sensorineural hearing loss disorder
Monogenic hearing loss
Rare genetic deafness
Congenital portosystemic shunt
Ear malformation
Nonsyndromic genetic hearing loss
Autosomal recessive nonsyndromic hearing loss 9
Papillary renal cell carcinoma type 1
Carney complex
type 1
Intellectual disability
Key Variants
RS1006770
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
Health Risk
RS1007046371
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
Health Risk
RS1033270809
Conflicting classifications of pathogenicity
Health Risk
RS1057519605
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 3, Hearing loss, autosomal recessive
Health Risk
RS1162164452
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS116833707
Conflicting classifications of pathogenicity
MYO15A-related disorder, MYO15A-related disorder
Health Risk
RS117021471
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
Health Risk
RS117767901
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
Health Risk
RS1179007410
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1240823956
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
Health Risk
RS1257912388
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
Health Risk
RS1260018632
Conflicting classifications of pathogenicity
Hearing impairment, Hearing impairment
Health Risk
All Variants (790)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2545262131 | Health Risk | Pathogenic | — |
| RS2545265594 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3 |
| RS2545266499 | Health Risk | Pathogenic | — |
| RS2545266506 | Health Risk | Pathogenic | — |
| RS2545266943 | Health Risk | Pathogenic | — |
| RS2545268569 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3 |
| RS2545271954 | Health Risk | Pathogenic | — |
| RS2545275989 | Health Risk | Pathogenic | — |
| RS2545276155 | Health Risk | Pathogenic | — |
| RS2545276246 | Health Risk | Pathogenic | — |
| RS2545276422 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3 |
| RS2545277918 | Health Risk | Pathogenic | — |
| RS2545280195 | Health Risk | Pathogenic | — |
| RS2545280490 | Health Risk | Pathogenic | — |
| RS2545281070 | Health Risk | Pathogenic | — |
| RS2545283571 | Health Risk | Pathogenic | — |
| RS2545286231 | Health Risk | Pathogenic | — |
| RS2545292896 | Health Risk | Pathogenic | — |
| RS2545292934 | Health Risk | Pathogenic | — |
| RS2545293159 | Health Risk | Pathogenic | — |
| RS2545294406 | Health Risk | Pathogenic | — |
| RS2545295851 | Health Risk | Pathogenic | — |
| RS2545301360 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3 |
| RS2545303014 | Health Risk | Pathogenic | — |
| RS2545305297 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3 |
| RS2545307720 | Health Risk | Pathogenic | — |
| RS2545309831 | Health Risk | Pathogenic | Hearing loss, autosomal recessive, Hearing loss |
| RS2545320150 | Health Risk | Pathogenic | — |
| RS2545320471 | Health Risk | Pathogenic | — |
| RS2545325224 | Health Risk | Pathogenic | — |
| RS2545325263 | Health Risk | Pathogenic | — |
| RS2545327490 | Health Risk | Pathogenic | — |
| RS2545327639 | Health Risk | Pathogenic | — |
| RS2545334534 | Health Risk | Pathogenic | — |
| RS2545338409 | Health Risk | Pathogenic | — |
| RS2545338581 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3 |
| RS368883685 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3 |
| RS368931546 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3 |
| RS371352951 | Health Risk | Pathogenic | — |
| RS373520843 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3 |
| RS397517286 | Health Risk | Pathogenic | Rare genetic deafness, Rare genetic deafness |
| RS397517287 | Health Risk | Pathogenic | Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 3, Rare genetic deafness |
| RS546575046 | Health Risk | Pathogenic | Rare genetic deafness, Rare genetic deafness |
| RS548514957 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3 |
| RS549138385 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3 |
| RS571594379 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 3, Papillary renal cell carcinoma type 1, Autosomal recessive nonsyndromic hearing loss 3 |
| RS727503309 | Health Risk | Pathogenic | Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 3, Rare genetic deafness |
| RS727503315 | Health Risk | Pathogenic | Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 3, Rare genetic deafness |
| RS727504995 | Health Risk | Pathogenic | Nonsyndromic genetic hearing loss, Rare genetic deafness, Nonsyndromic genetic hearing loss |
| RS746051220 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3 |