Version 19.202
Latest signed off version: v19.1
(22 Mar 2023)
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
Phenotypes
- Nemaline Myopathy, Recessive
- Nemaline myopathy 7, autosomal recessive, 610687
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Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.31
Latest signed off version: v5.0
(22 Mar 2023)
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Red
- UKGTN
- Radboud University Medical Center, Nijmegen
- Expert
- Illumina TruGenome Clinical Sequencing Services
- Expert list
Phenotypes
- Nemaline myopathy 7, autosomal recessive, 610687
- Nemaline Myopathy, Recessive
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Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 4.37
Latest signed off version: v4.0
(22 Mar 2023)
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
|
Sources
- NHS GMS
- London South GLH
- Expert Review Green
- Expert
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- UKGTN
Phenotypes
- Nemaline myopathy 7, autosomal recessive, OMIM:610687
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Version 3.169
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- PAGE DD-Gene2Phenotype
Phenotypes
- Nemaline myopathy 7, autosomal recessive, OMIM:610687
- Nemaline myopathy 7, MONDO:0012538
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Version 3.90
Latest signed off version: v3.1
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
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BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- DD-Gene2Phenotype
Phenotypes
- NEMALINE MYOPATHY 7 610687
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Version 1.184
|
review
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BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Nemaline myopathy 7, autosomal recessive, 610687
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