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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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Amber
- Radboud University Medical Center, Nijmegen
- Literature
Phenotypes
- Glycosylphosphatidylinositol deficiency, OMIM:610293
Tags
- promoter
- non-coding-known-pathogenic
- Q4_23_promote_green
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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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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Literature
Phenotypes
- Glycosylphosphatidylinositol deficiency, OMIM:610293
Tags
- promoter
- curated-variant-list
- non-coding-known-pathogenic
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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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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Amber
- London North GLH
- NHS GMS
Phenotypes
- Glycosylphosphatidylinositol deficiency, OMIM:610293
Tags
- non-coding-known-pathogenic
- Q4_23_promote_green
- Q4_23_NHS_review
- promoter
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Version 3.87
Latest signed off version: v3.1
(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
- DD-Gene2Phenotype
- Expert Review Red
Phenotypes
- Glycosylphosphatidylinositol deficiency
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Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 4.195
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Unexplained death in infancy and sudden unexplained death in childhood
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- London North GLH
- Expert Review Amber
- NHS GMS
Phenotypes
- Glycosylphosphatidylinositol deficiency, OMIM:610293
Tags
- Q4_23_promote_green
- promoter
- non-coding-known-pathogenic
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Version 3.77
Latest signed off version: v3.0
(22 Mar 2023)
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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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