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Level 3: Deafness and congenital structural abnormalities
Level 2: Hearing and ear disorders
Version 1.25
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review
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
- Expert Review Red
- Radboud University Medical Center, Nijmegen
Phenotypes
- Enlarged vestibular aqueduct, 600791
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Level 3: Non-syndromic hearing loss
Level 2: Hearing and ear disorders
Version 4.38
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Expert
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Nonsyndromic Hearing Loss, Mixed
- #600791:Enlarged vestibular aqueduct
- hearing loss
Tags
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Level 3: Disorders of function
Level 2: Renal and urinary tract disorders
Version 4.17
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Renal superpanel - broad
Renal superpanel - narrow
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- NHS GMS
- Expert Review Amber
- Literature
- Expert Review
Phenotypes
- deafness
- renal tubular acidosis
- Early onset sensorinerual deafness and distal renal tubular acidosis (no OMIM number)
- Enlarged vestibular aqueducts, 6007910
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