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Level 3: Deafness and congenital structural abnormalities
Level 2: Hearing and ear disorders
Version 1.22
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review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- Expert list
Phenotypes
- Microtia, Hearing Impairment, and Cleft Palate
- 612290
- Microtia with or without hearing impairment (AD) 612290 AD, AR
- Microtia, hearing impairment, and cleft palate (AR) 612290
- dominant bilateral microtia
- recessive family also reported
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Level 3: Non-syndromic hearing loss
Level 2: Hearing and ear disorders
Version 4.36
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 Review Green
- Expert
- Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Microtia, Hearing Impairment, and Cleft Palate
- Microtia, Hearing Impairment, and Cleft Palate
- #612290:?Microtia, hearing impairment, and cleft palate (AR)
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Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 4.108
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
- Victorian Clinical Genetics Services
- Expert Review Red
- Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Microtia, Hearing Impairment, and Cleft Palate
- Ear anomalies and orofacial clefting
- ?Microtia with or without hearing impairment (includes clefting), 612290, (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown)
- ?Microtia with or without hearing impairment (includes clefting), 612290, (BIALLELIC, autosomal or pseudoautosomal)
- Cleft palate
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