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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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Not set
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Sources
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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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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Eligibility statement prior genetic testing
- Radboud University Medical Center, Nijmegen
Phenotypes
- Deafness,autosomal recessive 4,with 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
- Eligibility statement prior genetic testing
- Expert
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Nonsyndromic Hearing Loss, Recessive
- Pendred syndrome, 274600
- hearing loss
- Deafness, autosomal recessive 4, with enlarged vestibular aqueduct, 600791
- enlarged vestibular aqueducts
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Level 3: Thyroid disorders
Level 2: Endocrine disorders
Version 2.18
Latest signed off version: v2.2
(25 Feb 2020)
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Eligibility statement prior genetic testing
- Other
Phenotypes
- Pendred syndrome, 274600 (congenital deafness and thyroid goitre)
- Sensorineural deafness
- enlarged vestibular aqueduct
- Mondini defect
- partial iodide organification defect
- goitre
- mild hypothyroidism
Tags
- treatable
- monogenic-polygenic
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Version 1.184
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Deafness, autosomal recessive 4, with enlarged vestibular aqueduct, 600791
- Pendred syndrome, 274600
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