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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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Literature
Phenotypes
- Aromatic L-amino acid decarboxylase deficiency, OMIM:608643
- Aromatic L-amino acid decarboxylase deficiency, MONDO:0012084
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Level 3: Clinical trials
Level 2: Actionable information
Version 0.9
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
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Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.147
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Emory Genetics Laboratory
Phenotypes
- Aromatic L-amino acid decarboxylase deficiency, OMIM:608643
- Aromatic L-amino acid decarboxylase deficiency, MONDO:0012084
- Floppy child
- Dystonia
- Hypotonia
- Developmental delay
- Oculogyric crisis
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Version 0.36
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review
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Not set
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Sources
|
Version 4.47
Latest signed off version: v4.34
(31 Jul 2023)
|
review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Red
- Yorkshire and North East GLH
- NHS GMS
- South West GLH
Phenotypes
- Aromatic L-amino acid decarboxylase deficiency, OMIM:608643
- Aromatic L-amino acid decarboxylase deficiency, MONDO:0012084
|
Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.617
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- UKGTN
- Literature
Phenotypes
- Aromatic L-amino acid decarboxylase deficiency, OMIM:608643
- Aromatic L-amino acid decarboxylase deficiency, MONDO:0012084
|
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
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- London North GLH
- NHS GMS
- Expert Review Green
Phenotypes
- Aromatic L-amino acid decarboxylase deficiency, OMIM:608643
- Aromatic L-amino acid decarboxylase deficiency, MONDO:0012084
|
Version 3.157
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Red
- PAGE DD-Gene2Phenotype
Phenotypes
- Aromatic L-amino acid decarboxylase deficiency, OMIM:608643
- Aromatic L-amino acid decarboxylase deficiency, MONDO:0012084
|
Version 3.87
Latest signed off version: v3.1
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- AROMATIC L-AMINO-ACID DECARBOXYLASE DEFICIENCY 608643
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Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 4.195
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
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Literature
Phenotypes
- Aromatic L-amino acid decarboxylase deficiency, OMIM:608643
- Aromatic L-amino acid decarboxylase deficiency, MONDO:0012084
|
Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.536
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
|
Sources
Phenotypes
- Aromatic L-amino acid decarboxylase deficiency, OMIM:608643
- Aromatic L-amino acid decarboxylase deficiency, MONDO:0012084
|
Version 3.18
Latest signed off version: v3.12
(31 Jul 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Amber
- NHS GMS
- South West GLH
Phenotypes
- Aromatic L-amino acid decarboxylase deficiency, OMIM:608643
- Aromatic L-amino acid decarboxylase deficiency, MONDO:0012084
|
Version 3.77
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- PanelApp
- Expert Review Green
- London North GLH
Phenotypes
- Aromatic L-amino acid decarboxylase deficiency, OMIM:608643
- Aromatic L-amino acid decarboxylase deficiency, MONDO:0012084
|
Version 1.184
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Aromatic L-amino acid decarboxylase deficiency, OMIM:608643
- Aromatic L-amino acid decarboxylase deficiency, MONDO:0012084
|