Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.311
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review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Other
- Literature
Phenotypes
- ?Spastic paraplegia 72, autosomal recessive, 615625
- ?Spastic paraplegia 72, autosomal dominant,615625
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Version 4.43
Latest signed off version: v4.0
(22 Mar 2023)
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review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Yorkshire and North East GLH
- NHS GMS
- London North GLH
- Literature
- Other
Phenotypes
- Spastic paraplegia 72, autosomal dominant,615625
- Spastic paraplegia 72, autosomal recessive, 615625
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Version 3.21
Latest signed off version: v3.14
(31 Jul 2023)
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review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- Expert Review Amber
- Yorkshire and North East GLH
- South West GLH
- NHS GMS
- London North GLH
Phenotypes
- ?Spastic paraplegia 72, autosomal dominant, 615625
- ?Spastic paraplegia 72, autosomal dominant,615625
- ?Spastic paraplegia 72, autosomal recessive, 615625
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Version 4.47
Latest signed off version: v4.34
(31 Jul 2023)
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review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- Expert Review Red
- Wessex and West Midlands GLH
- Yorkshire and North East GLH
- London North GLH
- NHS GMS
- South West GLH
Phenotypes
- ?Spastic paraplegia 72, autosomal recessive, 615625
- ?Spastic paraplegia 72, autosomal dominant,615625
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Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.544
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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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- Expert Review Red
- BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
- ?Spastic paraplegia 72, autosomal recessive, 615625
- ?Spastic paraplegia 72, autosomal dominant, 615625
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Version 1.184
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review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
- Next Generation Children Project
- Expert Review Amber
- Expert list
Phenotypes
- Small cell cancer of the lung, somatic, 182280
- Osteosarcoma, somatic, 259500
- Retinoblastoma, trilateral, 180200
- Retinoblastoma, 180200
- Bladder cancer, somatic, 109800
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