Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 4.4
Latest signed off version: v4.0
(1 May 2024)
Component of the following Super Panels:
Hypotonic infant
Other rare neuromuscular disorders
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- NHS GMS
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
Phenotypes
- Rhabdomyolysis
- Myopathy due to myoadenylate deaminase deficiency 615511
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Version 0.36
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review
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Not set
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Sources
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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 Red
- Literature
Phenotypes
- Myoadenylate deaminase deficiency (Disorders of purine metabolism)
- Myopathy due to myoadenylate deaminase deficiency 615511
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Version 5.3
Latest signed off version: v5.0
(1 May 2024)
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
- London North GLH
- NHS GMS
- Expert Review Red
Phenotypes
- Myoadenylate deaminase deficiency (Disorders of purine metabolism)
- Myopathy due to myoadenylate deaminase deficiency 615511
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Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.18
Latest signed off version: v1.7
(31 May 2023)
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- NHS GMS
- Expert Review Green
Phenotypes
- Myopathy due to myoadenylate deaminase deficiency, OMIM:615511
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