Version 3.20
Latest signed off version: v3.0
(22 Mar 2023)
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Amber
- NHS GMS
Phenotypes
- Mitochondrial complex IV deficiency, nuclear type 23, OMIM:620275
- Mitochondrial complex IV deficiency, nuclear type 23, MONDO:0859520
Tags
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Version 3.105
Latest signed off version: v3.0
(22 Mar 2023)
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Amber
- NHS GMS
Phenotypes
- Mitochondrial complex IV deficiency, nuclear type 23, OMIM:620275
- Mitochondrial complex IV deficiency, nuclear type 23, MONDO:0859520
Tags
- Q4_23_promote_green
- Q4_23_NHS_review
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Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 4.196
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
- Expert Review Amber
- NHS GMS
Phenotypes
- Mitochondrial complex IV deficiency, nuclear type 23, OMIM:620275
- Mitochondrial complex IV deficiency, nuclear type 23, MONDO:0859520
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Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.544
Latest signed off version: v5.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
|
review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Amber
- NHS GMS
Phenotypes
- Mitochondrial complex IV deficiency, nuclear type 23, OMIM:620275
- Mitochondrial complex IV deficiency, nuclear type 23, MONDO:0859520
Tags
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Level 3: Mitochondrial
Level 2: Metabolic disorders
Version 4.169
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
|
review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Amber
- NHS GMS
Phenotypes
- Mitochondrial complex IV deficiency, nuclear type 23, OMIM:620275
- Mitochondrial complex IV deficiency, nuclear type 23, MONDO:0859520
Tags
|