Usher Syndrome Type 1, Deafness, Autosomal Dominant 11 (DFNA11) and Deafness, Autosomal Recessive 2 (DFNB2) via the MYO7A Gene

GTR Test IDHelpEach Test is a specific, orderable test from a particular laboratory, and is assigned a unique GTR accession number. The format is GTR00000001.1, with a leading prefix 'GTR' followed by 8 digits, a period, then 1 or more digits representing the version. When a laboratory updates a registered test, a new version number is assigned.: GTR000506175.14
Last updated: 2023-06-19
Test version history
- 506175.14, last updated: 2023-06-19
- 506175.13, last updated: 2019-10-09
- 506175.12, last updated: 2019-01-10
- 506175.11, last updated: 2018-08-23
- 506175.10, last updated: 2018-07-03
- 506175.9, last updated: 2017-12-04
- 506175.8, last updated: 2016-05-12
- 506175.7, last updated: 2016-03-30
- 506175.6, last updated: 2016-03-08
- 506175.5, last updated: 2016-01-28
- 506175.4, last updated: 2015-09-18
- 506175.3, last updated: 2015-08-14
- 506175.2, last updated: 2015-02-27
- 506175.1, last updated: 2014-06-06

Clinical testHelpIn the U.S., clinical tests must be performed under CLIA certification. When a lab uses the same methods for a test in both clinical and research settings, the test appears as two separate GTR records. for Usher syndrome type 1
Offered by PreventionGenetics

Indication

This is a clinical test intended for HelpPurposes or indications for the test. Lab-provided.: Diagnosis, Mutation Confirmation, Risk Assessment, Screening, Pre-symptomatic

Imported from GeneReviews

Usher syndrome type I (USH1) is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa (RP). Unless fitted with a cochlear implant, individuals do not typically develop speech. RP, a progressive, bilateral, symmetric degeneration of rod and cone functions of the retina, develops in adolescence, resulting in progressively constricted visual fields and impaired visual acuity.

Imported from Human Phenotype Ontology (HPO)

Sensorineural hearing impairment
Nystagmus
Abnormal electroretinogram
Motor delay
Undetectable electroretinogram
Visual loss
Absent vestibular function
Rod-cone dystrophy

Show all

Conditions tested

All patients with symptoms suggestive of combined sensorineural hearing loss, RP, and vestibular areflexia are candidates for testing. The MYO7A gene is also a candidate for patients presenting with familial nonsyndromic hearing loss (DFNB2 and DFNA11). This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in MYO7A.

Citations

Not provided

Reviews

Clinical resources

Practice guidelines

EuroGenetest, 2011
Clinical utility gene card for: Usher syndrome.

Molecular resources

Consumer resources

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Usher Syndrome Type 1, Deafness, Autosomal Dominant 11 (DFNA11) and Deafness, Autosomal Recessive 2 (DFNB2) via the MYO7A Gene

Indication

Clinical summary

Imported from GeneReviews

Clinical features