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Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 4.18
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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Other - please specify in evaluation comments
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Sources
- Expert Review Red
- UKGTN
- Radboud University Medical Center, Nijmegen
- Literature
Phenotypes
- Tn polyagglutination syndrome, somatic 300622
- COSMC-CDG (Disorders of protein O-glycosylation, O-N-acetylgalactosaminylglycan synthesis deficiencies)
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Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.617
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review
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Other - please specifiy in evaluation comments
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Sources
- Expert Review Red
- Literature
Phenotypes
- Tn polyagglutination syndrome, somatic 300622
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Version 4.137
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
Unexplained death in infancy and sudden unexplained death in childhood
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review
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Other - please specify in evaluation comments
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Sources
- London North GLH
- NHS GMS
- Expert Review Red
Phenotypes
- COSMC-CDG (Disorders of protein O-glycosylation, O-N-acetylgalactosaminylglycan synthesis deficiencies)
- Tn polyagglutination syndrome, somatic
- Tn polyagglutination syndrome, somatic 300622
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