Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 2.92
Latest signed off version: v2.4
(4 Mar 2020)
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 Green
- Radboud University Medical Center, Nijmegen
- Literature
- Illumina TruGenome Clinical Sequencing Services
- Emory Genetics Laboratory
Phenotypes
- Congenital disorder of glycosylation, type IId, OMIM:607091
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Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.542
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Literature
Phenotypes
- Congenital disorder of glycosylation, type IId, OMIM:607091
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Version 2.263
Latest signed off version: v2.3
(17 Feb 2020)
Component of the following Super Panels:
Hypotonic infant
Paediatric disorders
White matter disorders - childhood onset
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- London North GLH
- NHS GMS
- Expert Review Green
Phenotypes
- Congenital disorder of glycosylation, type IId, OMIM:607091
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Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.1677
Latest signed off version: v3.2
(13 Feb 2020)
Component of the following Super Panels:
Hypotonic infant
Paediatric disorders
White matter disorders - childhood onset
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Amber
- Victorian Clinical Genetics Services
- Radboud University Medical Center, Nijmegen
Phenotypes
- Congenital disorder of glycosylation, type IId, OMIM:607091
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Version 1.246
Latest signed off version: v1.137
(5 Aug 2021)
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review
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Not set
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Sources
- Expert Review Red
- London North GLH
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Version 1.127
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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
- Congenital disorder of glycosylation, type IId, 607091
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