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Level 3: Other hearing and ear disorders
Level 2: Hearing and ear disorders
Version 1.3
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review
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
- Expert Review Green
- Literature
- UKGTN
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- Other
Phenotypes
- Deafness, autosomal dominant 9, 601369
- cochlear-vestibular dysfunction
Tags
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Level 3: Non-syndromic hearing loss
Level 2: Hearing and ear disorders
Version 4.39
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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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- Expert list
- Expert Review Green
- Expert
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Deafness, autosomal recessive 110 OMIM:618094
- Deafness, autosomal dominant 9 OMIM:601369
- deafness, autosomal recessive 110 MONDO:0054860
- autosomal dominant nonsyndromic deafness 9 MONDO:0011058
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Version 1.184
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review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
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