Level 3: Neurodegenerative disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.121
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Red
- Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Parkinson Disease, Dominant/Recessive (susceptibility to)
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Version 0.36
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review
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Not set
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Sources
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Version 5.3
Latest signed off version: v5.0
(1 May 2024)
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Amber
- NHS GMS
- Yorkshire and North East GLH
Phenotypes
- Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism, OMIM:619911
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Version 4.3
Latest signed off version: v4.0
(1 May 2024)
Component of the following Super Panels:
Paediatric disorders
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review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
- DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- NR4A2-related developmental disorder (monoallelic)
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Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 5.10
Latest signed off version: v5.0
(1 May 2024)
Component of the following Super Panels:
Paediatric disorders
Unexplained death in infancy and sudden unexplained death in childhood
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review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
- Expert Review Green
- Literature
Phenotypes
- Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism, OMIM:619911
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Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.12
Latest signed off version: v6.0
(1 May 2024)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
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review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Literature
Phenotypes
- Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism, OMIM:619911
Tags
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Version 3.19
Latest signed off version: v3.12
(31 Jul 2023)
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- NHS GMS
- South West GLH
- Expert Review Red
Phenotypes
- Parkinson Disease, Dominant/Recessive (susceptibility to)
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