Version 19.199
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
- Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, 615120
- Congenital myasthenic syndrome
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Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.22
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
- Radboud University Medical Center, Nijmegen
- Expert list
Phenotypes
- Fetal akinesia deformation sequence (FADS)
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Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 4.5
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
- Wessex and West Midlands GLH
- Expert Review Green
- Radboud University Medical Center, Nijmegen
Phenotypes
- Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, OMIM:615120
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Version 3.140
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 Red
- PAGE Additional Gene List
Phenotypes
- Fetal akinesia deformation sequence (FADS)
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Version 1.182
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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
- Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, 615120
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