Level 3: Neurodegenerative disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.120
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Expert
- Radboud University Medical Center, Nijmegen
Phenotypes
- Infantile neuroaxonal dystrophy 1, 256600
- Neurodegeneration with brain iron accumulation 2B, 610217
- Parkinson disease 14, 612953
- Early Onset Complex Disease
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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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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Expert Review
Phenotypes
- PLA2G6-associated neurodegeneration
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Version 4.58
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Hereditary ataxia and cerebellar anomalies - childhood onset
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
Phenotypes
- Infantile neuroaxonal dystrophy 1 (#256600)
- Parkinson disease 14 (#612953)
- Neurodegeneration with brain iron accumulation 2B (#610217)
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Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.332
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review
|
BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Expert Review
Phenotypes
- Infantile neuroaxonal dystrophy 1 (#256600)
- Neurodegeneration with brain iron accumulation 2B (#610217)
- Parkinson disease 14 (#612953)
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Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.39
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Literature
Phenotypes
- Infantile neuroaxonal dystrophy 1 256600
- Neurodegeneration with brain iron accumulation 2B 610217
- Parkinson disease 14, autosomal recessive 612953
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Version 4.46
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 14, autosomal recessive, OMIM:612953
- Neurodegeneration with brain iron accumulation 2B, OMIM:610217
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Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.615
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review
|
BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Literature
Phenotypes
- Infantile neuroaxonal dystrophy 1 256600
- Neurodegeneration with brain iron accumulation 2B 610217
- Parkinson disease 14, autosomal recessive 612953
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Version 4.134
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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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert list
- London North GLH
- NHS GMS
- Expert Review Green
Phenotypes
- Infantile neuroaxonal dystrophy 1
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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 Red
- PAGE DD-Gene2Phenotype
Phenotypes
- NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B
- INFANTILE NEUROAXONAL DYSTROPHY 1
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Version 3.79
Latest signed off version: v3.1
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- DD-Gene2Phenotype
Phenotypes
- INFANTILE NEUROAXONAL DYSTROPHY 1, OMIM:256600
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Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 4.183
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
- Other
- Literature
Phenotypes
- Infantile neuroaxonal dystrophy 1, OMIM:256600
- neurodegeneration with brain iron accumulation 2A, MONDO:0024457
- Neurodegeneration with brain iron accumulation 2B, OMIM:610217
- neurodegeneration with brain iron accumulation 2B, MONDO:0012444
- Parkinson disease 14, autosomal recessive, OMIM:612953
- autosomal recessive Parkinson disease 14, MONDO:0013060
Tags
- watchlist_moi
- Q4_23_promote_green
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Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.506
Latest signed off version: v5.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
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Sources
- Victorian Clinical Genetics Services
- Expert Review Green
- Radboud University Medical Center, Nijmegen
Phenotypes
- Infantile neuroaxonal dystrophy 1, 256600Neurodegeneration with brain iron accumulation 2B, 610217Parkinson disease 14, 612953
- NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B
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Level 3: Mitochondrial
Level 2: Metabolic disorders
Version 4.167
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Amber
- Expert list
Phenotypes
- Infantile neuroaxonal dystrophy 1, OMIM:256600
- neurodegeneration with brain iron accumulation 2A, MONDO:0024457
- Neurodegeneration with brain iron accumulation 2B, OMIM:610217
- neurodegeneration with brain iron accumulation 2B, MONDO:0012444
- Parkinson disease 14, autosomal recessive, OMIM:612953
- autosomal recessive Parkinson disease 14 MONDO:0013060
Tags
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Version 4.30
Latest signed off version: v4.0
(22 Mar 2023)
|
review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- London North GLH
- NHS GMS
- Wessex and West Midlands GLH
- Expert Review Green
- Hereditary ataxia v1.148
Phenotypes
- Parkinson disease 14 (#612953)
- Autosomal recessive Parkinson disease 14, 612953
- Infantile neuroaxonal dystrophy 1 (#256600)
- Neurodegeneration with brain iron accumulation 2B, 610217
- Neurodegeneration with brain iron accumulation 2B (#610217)
- Infantile neuroaxonal dystrophy 1, 256600
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Version 3.18
Latest signed off version: v3.12
(31 Jul 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- London North GLH
- Expert Review Green
Phenotypes
- Parkinson disease 14, autosomal recessive, OMIM:612953
- Neurodegeneration with brain iron accumulation 2B, OMIM:610217
|
Version 3.74
Latest signed off version: v3.0
(22 Mar 2023)
|
review
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BIALLELIC, autosomal or pseudoautosomal
|
Sources
- PanelApp
- Expert Review Green
- London North GLH
Phenotypes
- Neurodegeneration with brain iron accumulation 2B 610217
- Parkinson disease 14, autosomal recessive 612953
- Infantile neuroaxonal dystrophy 1 256600
- PLA2G6-associated neurodegeneration
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Version 1.182
|
review
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BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Infantile neuroaxonal dystrophy 1, 256600
- Parkinson disease 14, autosomal recessive, 612953
- Neurodegeneration with brain iron accumulation 2B, 610217
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