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
- Spinal muscular atrophy, distal, autosomal recessive, 4, 611067
- Distal Spinal Muscular Atrophy
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Level 3: Motor and Sensory Disorders of the PNS
Level 2: Neurology and neurodevelopmental disorders
Version 3.6
Latest signed off version: v3.3
(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
- Expert Review Red
- Expert
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Distal Spinal Muscular Atrophy
- Spinal muscular atrophy, distal, autosomal recessive, 4, 611067
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Level 3: Motor and Sensory Disorders of the PNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.477
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review
|
BIALLELIC, autosomal or pseudoautosomal
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Sources
- South West GLH
- NHS GMS
- London North GLH
- Expert Review Green
- Emory Genetics Laboratory
- UKGTN
- Radboud University Medical Center, Nijmegen
- Expert list
Phenotypes
- Charcot Marie Tooth disease, recessive intermediate C, 615376
- Spinal muscular atrophy, distal, autosomal recessive, 4, 611067
- Spinal muscular atrophy, distal, autosomal recessive, 4, 611067
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Version 3.94
Latest signed off version: v3.24
(15 May 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Radboud University Medical Center, Nijmegen
- South West GLH
- Expert Review Green
- UKGTN
- Emory Genetics Laboratory
- Expert list
- London North GLH
- NHS GMS
- South West GLH
- NHS GMS
- London North GLH
Phenotypes
- Spinal muscular atrophy, distal, autosomal recessive, 4, 611067
- Charcot Marie Tooth disease, recessive intermediate C, 615376
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