Version 4.63
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Hereditary ataxia and cerebellar anomalies - childhood onset
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Amber
- Literature
Phenotypes
- Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus, OMIM:616192
Tags
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Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 1.67
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- NHS GMS
- Expert Review Green
- Expert Review Green
- NHS GMS
Phenotypes
- ?Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus, 616192
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Version 2.57
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
- NHS GMS
Phenotypes
- ?Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus, OMIM:616192
- juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome, MONDO:0014523
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Level 3: Motor and Sensory Disorders of the PNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.477
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- NHS GMS
- London North GLH
Phenotypes
- Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus, 616192
- Cerebellar ataxia, neuropathy with SNCV, hearing loss, diabetes mellitus
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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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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Amber
- Literature
Phenotypes
- Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus, OMIM:616192
Tags
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Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.532
Latest signed off version: v5.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
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review
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Not set
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Sources
- Victorian Clinical Genetics Services
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Version 3.94
Latest signed off version: v3.24
(15 May 2023)
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Amber
- London North GLH
- NHS GMS
- NHS GMS
- London North GLH
Phenotypes
- Cerebellar ataxia, neuropathy with SNCV, hearing loss, diabetes mellitus
- Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus, 616192
Tags
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