Level 3: Fetal disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.64
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
Phenotypes
- Multiple pterygium syndrome, lethal type, MIM#253290
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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
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- Expert list
Phenotypes
- Multiple pterygium syndrome, lethal type, OMIM:253290
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Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 4.6
Latest signed off version: v4.5
(1 May 2024)
Component of the following Super Panels:
Hypotonic infant
Other rare neuromuscular disorders
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review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- NHS GMS
- Wessex and West Midlands GLH
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- UKGTN
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
Phenotypes
- ?Myasthenic syndrome, congenital, 3A, slow-channel, OMIM:616321
- ?Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency, OMIM:616323
- Myasthenic syndrome, congenital, 3B, fast-channel, OMIM:616322
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Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 4.33
Latest signed off version: v4.32
(1 May 2024)
Component of the following Super Panels:
Hypotonic infant
Other rare neuromuscular disorders
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review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- Expert Review Red
- NHS GMS
- Yorkshire and North East GLH
- Expert Review
Phenotypes
- Myasthenic syndrome, congenital, 3A, slow-channel, 616321
- Congenital myasthenic syndrome
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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
- PAGE Additional Gene List
- Expert Review Green
Phenotypes
- Several associated, probably most relevant is lethal multiple pterygium syndrome 253290
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Version 1.184
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review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- ?Myasthenic syndrome, congenital, 3A, slow-channel, 616321
- ?Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency, 616323
- Multiple pterygium syndrome, lethal type, 253290
- Myasthenic syndrome, congenital, 3B, fast-channel, 616322
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