Level 3: Urea Cycle disorders
Level 2: Metabolic disorders
Version 1.21
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Expert Review Green
- Emory Genetics Laboratory
Phenotypes
- Acyl-CoA dehydrogenase, medium chain, deficiency of 201450
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Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 4.4
Latest signed off version: v4.0
(1 May 2024)
Component of the following Super Panels:
Hypotonic infant
Other rare neuromuscular disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Emory Genetics Laboratory
Phenotypes
- Rhabdomyolysis
- Acyl-CoA dehydrogenase, medium chain, deficiency of 201450
|
Level 3: Cardiac arrhythmia
Level 2: Cardiovascular disorders
Version 1.15
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Removed
- Literature
- Emory Genetics Laboratory
Phenotypes
- Medium chain acyl-CoA dehydrogenase deficiency
- MCADD
- MCAD deficiency-associated sudden death
- sudden infant death syndrome
- SIDS
Tags
|
Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.3
Latest signed off version: v6.0
(1 May 2024)
|
review
|
Not set
|
Sources
- Expert Review Red
- Expert list
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Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.617
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Literature
Phenotypes
- Medium - chain acyl CoA dehydrogenase deficiency (Disorders of mitochondrial fatty acid oxidation)
- Acyl-CoA dehydrogenase, medium chain, deficiency of
|
Version 5.3
Latest signed off version: v5.0
(1 May 2024)
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
- NHS GMS
- London North GLH
- NHS GMS
- Expert Review Green
Phenotypes
- Acyl-CoA dehydrogenase, medium chain, deficiency of
- Medium - chain acyl CoA dehydrogenase deficiency (Disorders of mitochondrial fatty acid oxidation)
|
Version 3.106
Latest signed off version: v3.105
(1 May 2024)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Red
Phenotypes
- Acyl-CoA dehydrogenase, medium chain, deficiency of, 201450
|
Version 4.1
Latest signed off version: v4.0
(1 May 2024)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Red
- PAGE DD-Gene2Phenotype
Phenotypes
- MEDIUM CHAIN ACYL-COENZYME A DEHYDROGENASE DEFICIENCY
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Version 4.3
Latest signed off version: v4.0
(1 May 2024)
Component of the following Super Panels:
Paediatric disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- MEDIUM CHAIN ACYL-COENZYME A DEHYDROGENASE DEFICIENCY 201450
|
Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.11
Latest signed off version: v6.0
(1 May 2024)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- MEDIUM CHAIN ACYL-COENZYME A DEHYDROGENASE DEFICIENCY
|
Level 3: Mitochondrial
Level 2: Metabolic disorders
Version 6.4
Latest signed off version: v6.0
(1 May 2024)
Component of the following Super Panels:
Childhood onset leukodystrophy
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Red
- NHS GMS
Phenotypes
- Acyl-CoA dehydrogenase, medium chain, deficiency of, 201450
|
Version 4.3
Latest signed off version: v4.0
(1 May 2024)
|
review
|
Not set
|
Sources
- Expert Review Red
- London North GLH
|
Version 1.184
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Acyl-CoA dehydrogenase, medium chain, deficiency of, 201450
|
Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.18
Latest signed off version: v1.7
(31 May 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Green
Phenotypes
- Acyl-CoA dehydrogenase, medium chain, deficiency of, OMIM:201450
|
Version 1.1
Latest signed off version: v1.0
(14 Sep 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Green
|