Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.3
Latest signed off version: v6.0
(1 May 2024)
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Other
- Literature
Phenotypes
- Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect, OMIM:617468
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Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 4.38
Latest signed off version: v4.37
(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 Red
- Literature
- Other
Phenotypes
- Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect, OMIM:617468
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Version 4.1
Latest signed off version: v4.0
(1 May 2024)
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- PAGE DD-Gene2Phenotype
Phenotypes
- ARTHROGRYPOSIS MULTIPLEX CONGENITA
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Version 4.3
Latest signed off version: v4.0
(1 May 2024)
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
- Expert Review Green
- DD-Gene2Phenotype
Phenotypes
- ARTHROGRYPOSIS MULTIPLEX CONGENITA
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Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.13
Latest signed off version: v6.0
(1 May 2024)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Red
- BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
- Arthrogryposis Multiplex Congenita
- Arthrogryposis multiplex congenita, neurogenic, with myelin defect, 617468
- AMCNMY
- Intellectual disability
- Global developmental delay
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Version 1.184
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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
- Arthrogryposis multiplex congenita, neurogenic, with myelin defect, 617468
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