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 Green
- Radboud University Medical Center, Nijmegen
Phenotypes
- Parkinson disease 19b, early-onset, OMIM:615528
- Parkinson disease 19a juvenile-onset, OMIM:615528
- juvenile onset Parkinson disease 19A, MONDO:0014231
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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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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Wessex and West Midlands GLH
- Yorkshire and North East GLH
- NHS GMS
- London North GLH
- Expert Review Green
Phenotypes
- Parkinson disease 19b, early-onset, OMIM:615528
- Parkinson disease 19a juvenile-onset, OMIM:615528
- juvenile onset Parkinson disease 19A, MONDO:0014231
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Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 4.193
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
- Parkinson disease 19b, early-onset, OMIM:615528
- Parkinson disease 19a juvenile-onset, OMIM:615528
- juvenile onset Parkinson disease 19A, MONDO:0014231
Tags
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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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BIALLELIC, autosomal or pseudoautosomal
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Sources
- NHS GMS
- London North GLH
- Expert Review Green
Phenotypes
- Parkinson disease 19b, early-onset, OMIM:615528
- Parkinson disease 19a juvenile-onset, OMIM:615528
- juvenile onset Parkinson disease 19A, MONDO:0014231
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Version 3.75
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 Amber
- Literature
Phenotypes
- Parkinson disease 19b, early-onset, OMIM:615528
- Parkinson disease 19a juvenile-onset, OMIM:615528
- juvenile onset Parkinson disease 19A, MONDO:0014231
Tags
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