Version 3.19
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 22, OMIM:619355
- Hypertrophic cardiomyopathy
- Encephalopathy
- Severe fatal lactic acidosis
Tags
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Version 3.103
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 22, OMIM:619355
- Hypertrophic cardiomyopathy
- Encephalopathy
- Severe fatal lactic acidosis
Tags
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Version 3.79
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 Green
Phenotypes
- COX16-related Developmental Disorder
Tags
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Level 3: Mitochondrial
Level 2: Metabolic disorders
Version 4.167
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
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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 22, OMIM:619355
- Hypertrophic cardiomyopathy
- Encephalopathy
- Severe fatal lactic acidosis
Tags
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