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 Green
- Literature
Phenotypes
- Spinal muscular atrophy with congenital bone fractures 2, 616867
- Spinal muscular atrophy
- arthrogryposis
- fetal akinesia
- hypotonia
- contractures
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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
- Expert Review Amber
- Literature
Phenotypes
- Spinal muscular atrophy with congenital bone fractures 2, OMIM:616867
Tags
- Q1_23_NHS_review
- Q1_23_promote_green
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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
- Literature
Phenotypes
- spinal muscular atrophy
- arthrogryposis
- fetal akinesia
- hypotonia
- contractures
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Version 3.79
Latest signed off version: v3.1
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- DD-Gene2Phenotype
- Expert Review Red
Phenotypes
- Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures
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Version 3.9
Latest signed off version: v3.0
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- DD-Gene2Phenotype
Phenotypes
- Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures
- spinal muscular atrophy
- arthrogryposis
- fetal akinesia
- hypotonia
- contractures
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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
- Barrett esophagus/esophageal adenocarcinoma, 614266
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