Version 19.201
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
- Expert Review Green
- Literature
Phenotypes
- Hypotonia
- Axial hypotonia
- Ptosis
- Scoliosis
- Delayed motor milestones
- Myopathy, congenital, progressive, with scoliosis, 618578
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Level 3: Muscle and nerve
Level 2: Tumour syndromes
Version 1.5
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review
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Other - please specifiy in evaluation comments
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Sources
- Expert Review Red
- Radboud University Medical Center, Nijmegen
Phenotypes
- Rhabdomyosarcoma 2, alveolar, 268220
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Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 1.25
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review
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Other - please specifiy in evaluation comments
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Sources
- Expert Review Red
- Radboud University Medical Center, Nijmegen
Phenotypes
- Rhabdomyosarcoma 2, alveolar, 268220
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Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 4.36
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
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Sources
- NHS GMS
- Expert Review Green
- Expert Review
Phenotypes
- Myopathy, congenital, progressive, with scoliosis, OMIM:618578
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Version 3.146
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 Green
- Expert list
Phenotypes
- Myopathy, congenital, progressive, with scoliosis, OMIM:618578
- Myopathy, congenital, progressive, with scoliosis, MONDO:0032821
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Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.506
Latest signed off version: v5.0
(22 Mar 2023)
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
- Victorian Clinical Genetics Services
Phenotypes
- Hypotonia
- Axial hypotonia
- Ptosis
- Scoliosis
- Delayed motor milestones
- Myopathy, congenital, progressive, with scoliosis, 618578
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Version 1.81
Latest signed off version: v1.2
(18 Feb 2020)
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review
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Other - please specifiy in evaluation comments
|
Sources
- NHS GMS
- Expert Review Red
- Expert Review Red
- Radboud University Medical Center, Nijmegen
Phenotypes
- Rhabdomyosarcoma 2, alveolar, OMIM:268220
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