Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.9
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review
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BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Literature
Phenotypes
- Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, (AD/AR),128230
- Dopa-responsive dystonia
- Hyperphenylalaninemia, BH4-deficient, B, (AR) 233910
- GTP-cyclohydrolase deficiency
Tags
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Level 3: Neurodegenerative disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.121
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review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Expert list
Phenotypes
- Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230
- Hyperphenylalaninemia, BH4-deficient, B, 233910
- Dopa-Responsive Dystonia (DRD)
- Dopa-Responsive Dystonia (DRD)
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Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.147
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review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Expert
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
- Radboud University Medical Center, Nijmegen
Phenotypes
- Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230
- Hyperphenylalaninemia, BH4-deficient, B, 233910
- Dopa-Responsive Dystonia (DRD)
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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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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
- Expert Review Amber
- Literature
Phenotypes
- Dystonia
- Spastic paraplegia
- progressive spastic paraplegia
- Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230
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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
Phenotypes
- Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230
- Dystonia
- progressive spastic paraplegia
- Spastic paraplegia
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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
- Yorkshire and North East GLH
- South West GLH
- North West GLH
- Expert Review Green
- NHS GMS
- London North GLH
Phenotypes
- Dystonia
- progressive spastic paraplegia
- Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230
- Spastic paraplegia
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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 Green
- Wessex and West Midlands GLH
- Yorkshire and North East GLH
- London North GLH
- NHS GMS
- South West GLH
Phenotypes
- Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, OMIM:128230
- Hyperphenylalaninemia, BH4-deficient, B, OMIM:233910
- Spastic paraplegia
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Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.617
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review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Emory Genetics Laboratory
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Literature
Phenotypes
- Dystonia, DOPA-responsive, with or without hyperphenylalaninemia 128230
- Hyperphenylalaninemia, BH4-deficient, B 233910
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Version 4.137
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
Unexplained death in infancy and sudden unexplained death in childhood
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review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- London North GLH
- NHS GMS
- Expert Review Green
Phenotypes
- Dystonia, DOPA-responsive, with or without hyperphenylalaninemia
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Version 3.164
Latest signed off version: v3.0
(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 Red
- PAGE DD-Gene2Phenotype
Phenotypes
- GTP CYCLOHYDROLASE 1 DEFICIENCY
- DYSTONIA TYPE 5
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Version 3.88
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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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- DYSTONIA TYPE 5 128230
- GTP CYCLOHYDROLASE 1 DEFICIENCY 233910
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Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 4.196
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Unexplained death in infancy and sudden unexplained death in childhood
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Amber
- Wessex and West Midlands GLH
- NHS GMS
- Victorian Clinical Genetics Services
Phenotypes
- Hyperphenylalaninemia, BH4-deficient, B, 233910
- seizures
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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 Green
- Radboud University Medical Center, Nijmegen
Phenotypes
- Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230Hyperphenylalaninemia, BH4-deficient, B, 233910
- DYSTONIA TYPE 5 (DYT5)
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Version 3.18
Latest signed off version: v3.12
(31 Jul 2023)
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review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- NHS GMS
- London North GLH
- Expert Review Green
Phenotypes
- Hyperphenylalaninemia, BH4-deficient, B, OMIM:233910
- Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, OMIM:128230
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Version 3.77
Latest signed off version: v3.0
(22 Mar 2023)
|
review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- PanelApp
- Expert Review Green
- London North GLH
Phenotypes
- Dopa-Responsive Dystonia (DRD)
- Hyperphenylalaninemia, BH4-deficient, B, 233910
- Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230
- GTP-cyclohydrolase deficiency
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Version 1.184
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review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230
- Hyperphenylalaninemia, BH4-deficient, B, 233910
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