This panel is NO LONGER ACTIVELY MAINTAINED. Please use with caution, as the gene list has not been recently updated. Reviews added to this panel are no longer a priority for curation and may not be followed up. Please consider using an NHS Genomic Medicine Service (GMS) panel instead. The full list of GMS panels can be found here: https://nhsgms-panelapp.genomicsengland.co.uk/panels, with links back to PanelApp should you wish to leave a review on the panel. ----- Auditory Neuropathy Spectrum Disorder eligibility statement: Auditory Neuropathy Spectrum Disorder inclusion criteria (30608) - Diagnosis of ANSD (based on evidence from ABR testing, OAEs and tympanometry) - Apparently non-syndromic - Completed Visual Evoked Potentials examination - Normal vestibulocochlear nerves and cochlear morphology on MRI scanning - Absence of clinically apparent peripheral neuropathy Auditory Neuropathy Spectrum Disorder exclusion criteria (30608) - Prematurity (<37 weeks gestation or requiring >48 hours NICU) - Severe jaundice - Known syndrome - Peripheral neuropathy Prior genetic testing guidance (30608) - 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. Auditory Neuropathy Spectrum Disorder prior genetic testing genes (30608) Testing of the following genes should be carried out PRIOR TO RECRUITMENT where this is in line with current local practice: - OPA1 if VEP prolonged Closing statement (30608) These requirements will be kept under continual review during the main programme and may be subject to change.
Maria Bitner-Glindzicz (UCL)
Group: NHS Genomic Medicine Centre
Workplace: NHS clinical service
Richard Scott (Genomics England Curator)
Group: Other
Workplace: Other
Louise Daugherty (Genomics England Curator)
Group: Other
Workplace: Other
Eleanor Williams (Genomics England Curator)
Group: Other
Workplace: Other
Barbara Vona (University Medical Center Göttingen)
Group: Other
Workplace: Research lab
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8 Entitiess
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ATP1A3 |
1 review1 green |
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
Sources
Phenotypes
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DFNB59 |
2 reviews1 green |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
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OPA1 |
2 reviews1 green |
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
Sources
Phenotypes
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OTOF |
1 review1 green |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
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DIAPH3 |
3 reviews1 red |
BOTH monoallelic and biallelic, autosomal or pseudoautosomal |
Sources
Phenotypes
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ATP11A |
1 review1 red |
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
Sources
Phenotypes
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CABP2 |
1 review1 red |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
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TMEM43 |
1 review1 red |
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
Sources
Phenotypes
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