Version 19.202
Latest signed off version: v19.1
(22 Mar 2023)
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review
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
Phenotypes
- Spinal muscular atrophy, lower extremity-predominant, 2, AD, 615290
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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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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
- Expert Review Green
- Expert list
Phenotypes
- arthrogryposis multiplex congenita
- Spinal muscular atrophy, lower extremity-predominant, 2A, 615290
- autosomal dominant, Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant, 618291
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Version 3.155
Latest signed off version: v3.0
(22 Mar 2023)
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review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Green
- PAGE DD-Gene2Phenotype
Phenotypes
- PROXIMAL SPINAL MUSCULAR ATROPHY WITH AUTOSOMAL-DOMINANT INHERITANCE
- Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant, 618291
- arthrogryposis multiplex congenita (AMC)
- reduced fetal movements
- hydrops fetalis
- Pterygium
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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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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
- Expert Review Green
- Expert
- Radboud University Medical Center, Nijmegen
Phenotypes
- Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant, OMIM:615290
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Version 3.87
Latest signed off version: v3.1
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- PROXIMAL SPINAL MUSCULAR ATROPHY WITH AUTOSOMAL-DOMINANT INHERITANCE
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Level 3: Motor and Sensory Disorders of the PNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.477
|
review
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
- South West GLH
- NHS GMS
- London North GLH
- Expert Review Green
- Expert list
Phenotypes
- Spinal muscular atrophy, lower extremity-predominant, 2, AD, 615290
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Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.532
Latest signed off version: v5.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
|
review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Red
- BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
- Spinal muscular atrophy, lower extremity-predominant, 2, AD, 615290
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Version 3.94
Latest signed off version: v3.24
(15 May 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- South West GLH
- Expert Review Green
- Expert list
- London North GLH
- NHS GMS
- South West GLH
- NHS GMS
- London North GLH
Phenotypes
- Spinal muscular atrophy, lower extremity-predominant, 2, AD, 615290
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Version 1.184
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant, 618291
- Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant, 615290
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