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Inclusion Criteria
• Non-syndromic hearing loss in proband, AND • Two or more additional affected family members in at least two generations, of which one must be a first degree relative of the proband and a have a similar or compatible audiometric hearing loss, AND • Audiometry must be provided on 2 or more affected individuals. Individuals with severe or syndromic disease should be recruited according to standard guidance, typically as trios. Disease status of apparently unaffected participants should be determined according to standard clinical practice to detect cryptic disease. In other cases, unaffected individuals should not be recruited. Recruitment in such families should favour multiplex families over single isolated cases. These singleton recruits will not contribute to the overall singleton monitoring metrics applied to GMCs.
Exclusion Criteria
• Features of known syndrome
Prior Genetic Testing
- Results should have been reviewed for all genetic tests undertaken, including disease-relevant genes in exome sequencing data. The patient is not eligible if they have a molecular diagnosis for their condition. - Genetic testing should continue according to routine local practice for this phenotype regardless of recruitment to the project; results of these tests must be submitted via the ‘Genetic investigations’ section of the data capture tool to allow comparison of WGS with current standard testing. PLEASE NOTE: The sensitivity of WGS compared to current diagnostic genetic testing has not yet been established. It is therefore important that tests which are clinically indicated under local standard practice continue to be carried out.
Genes
Testing of the following genes should be carried out PRIOR TO RECRUITMENT where this is in line with current local practice: - All patients must have dominant monoallelic or recessive bi-allelic mutations in GJB2 excluded - UKGTN gene panel testing is available and should be encouraged
Closing Statement
These requirements will be kept under continual review during the main programme and may be subject to change.
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Bilateral sensorineural hearing impairment
A bilateral form of sensorineural hearing impairment.
Mid-frequency hearing loss
A type of hearing impairment affecting primarily the middle frequencies of sound (1000 Hz to 3000 Hz).
Progressive hearing impairment
A progressive form of hearing impairment.
High-frequency hearing impairment
A type of hearing impairment affecting primarily the higher frequencies of sound (3,000 to 6,000 Hz). Comment: High frequency hearing impairment often involves loss of ability to hear consonants such as s, f, t, and z, even though vowels can be heard normally.
Mild hearing impairment
The presence of a mild form of hearing impairment.
Moderate hearing impairment
The presence of a moderate form of hearing impairment.
Aplasia of the vestibular nerve.
Absence of the vestibular nerve Comment: May be seen in CHARGE syndrome.
Unilateral deafness
A unilateral absence of sensory perception of sound. Comment: Deafness affecting only one ear.
Vestibular hypofunction
Reduced functioning of the vestibular apparatus.
Morphological abnormality of the semicircular canal
An abnormality of the morphology of the semicircular canal.
Abnormality of the middle ear ossicles
An abnormality of the middle-ear ossicles (three small bones called malleus, incus, and stapes) that are contained within the middle ear and serve to transmit sounds from the air to the fluid-filled labyrinth (cochlea).
Low-frequency hearing loss
A type of hearing impairment affecting primarily the low frequencies of sound (125 Hz to 1000 Hz).
Adult onset sensorineural hearing impairment
The presence of sensorineural deafness with late onset.
Childhood onset sensorineural hearing impairment
Sensorineural hearing impairment with childhood onset.
Severe sensorineural hearing impairment
A severe form of sensorineural hearing impairment.
Vertigo
An abnormal sensation of spinning while the body is actually stationary.
Congenital sensorineural hearing impairment
A type of hearing impairment caused by an abnormal functionality of the cochlear nerve with congenital onset.
Sensorineural hearing impairment
A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve. Comment: Hearing loss caused by damage or dysfunction of the auditory nerve (cranial nerve VIII, also known as the cochlear nerve).
Enlarged vestibular aqueduct
Increased size of the vestibular aqueduct. Comment: Enlarged vestibular aqueduct is commonly seen in Pendred syndrome.
Abnormality of the cochlear nerve
Hypoplasia of the vestibular nerve
Underdevelopment of the vestibular nerve.
Morphological abnormality of the vestibule of the inner ear
A morphological abnormality of the vestibule, the central part of the osseous labyrinth that is situated medial to the tympanic cavity, behind the cochlea, and in front of the semicircular canals.
Abnormality of cochlea
An abnormality of the cochlea. Comment: The cochlea is an inner ear structure comprised of a snail-shell like structure divided into three fluid-filled parts. Two are canals for the transmission of pressure and in the third is the organ of Corti, which detects pressure impulses and responds with electrical impulses which travel along the auditory nerve to the brain.
Profound sensorineural hearing impairment
Complete loss of hearing related to a sensorineural defect.
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- General Imaging Diagnostics
General imaging diagnostics report to capture reports that aren't included in the specific subclasses. Inherits all the elements in the abstract Imaging Diagnostics class and the abstract Investigation Class.
- General Imaging Diagnostics