Level 3: Urea Cycle disorders
Level 2: Metabolic disorders
Version 1.21
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review
|
BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Emory Genetics Laboratory
Phenotypes
- CPT II deficiency, infantile, OMIM:600649
- CPT II deficiency, lethal neonatal, OMIM:608836
|
Level 2: Viral research
Version 1.142
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review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
Phenotypes
- {Encephalopathy, acute, infection-induced, 4, susceptibility to} 614212
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Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.48
Latest signed off version: v3.0
(22 Mar 2023)
Component of the following Super Panels:
Hypotonic infant
Other rare neuromuscular disorders
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- UKGTN
Phenotypes
- CPT II deficiency, myopathic, stress-induced, OMIM:255110
- Exercise intolerance and rhabdomyolysis, late onset
|
Version 19.202
Latest signed off version: v19.1
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- CPT II deficiency, lethal neonatal 608836
- CPT II deficiency, infantile 600649
- CPT II deficiency, myopathic, stress-induced 255110
- CPT II deficiency, myopathic, stress-induced
|
Version 1.29
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Red
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Expert list
Phenotypes
- CPT II deficiency, infantile, OMIM:600649
- CPT II deficiency, lethal neonatal, OMIM:608836
|
Version 0.36
|
review
|
Not set
|
Sources
|
Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.31
Latest signed off version: v5.0
(22 Mar 2023)
|
review
|
Not set
|
Sources
- Expert Review Red
- Radboud University Medical Center, Nijmegen
- Expert list
Phenotypes
- CPT II deficiency, infantile, OMIM:600649
- CPT II deficiency, lethal neonatal, OMIM:608836
|
Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 4.37
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Hypotonic infant
Other rare neuromuscular disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Red
- Radboud University Medical Center, Nijmegen
Phenotypes
- CPT II deficiency, infantile, OMIM:600649
- CPT II deficiency, lethal neonatal, OMIM:608836
|
Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 4.32
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Hypotonic infant
Other rare neuromuscular disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- NHS GMS
- Yorkshire and North East GLH
- Expert Review
Phenotypes
- CPT II deficiency, infantile, OMIM:600649
- CPT II deficiency, lethal neonatal, OMIM:608836
|
Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.617
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Literature
Phenotypes
- CPT II deficiency, infantile, OMIM:600649
- CPT II deficiency, lethal neonatal, OMIM:608836
- CPT II deficiency, myopathic, stress-induced, OMIM:255110
- Carnitine palmitoyltransferase II (CPTII) deficiency (Disorders of carnitine transport and the carnitine cycle)
|
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
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- London North GLH
- NHS GMS
- Expert Review Green
Phenotypes
- CPT II deficiency, infantile, OMIM:600649
- CPT II deficiency, lethal neonatal, OMIM:608836
- CPT II deficiency, myopathic, stress-induced, OMIM:255110
- Carnitine palmitoyltransferase II (CPTII) deficiency (Disorders of carnitine transport and the carnitine cycle)
|
Version 3.105
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Red
Phenotypes
- CPT II deficiency, infantile, OMIM:600649
- CPT II deficiency, lethal neonatal, OMIM:608836
- CPT II deficiency, myopathic, stress-induced, OMIM:255110
|
Version 3.164
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- PAGE Additional Gene List
- Expert Review Green
Phenotypes
- CPT II deficiency, infantile, OMIM:600649
- CPT II deficiency, lethal neonatal, OMIM:608836
|
Level 3: Mitochondrial
Level 2: Metabolic disorders
Version 4.169
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Expert Review Red
- NHS GMS
Phenotypes
- CPT II deficiency, infantile, OMIM:600649
- CPT II deficiency, lethal neonatal, OMIM:608836
- CPT II deficiency, myopathic, stress-induced, OMIM:255110
|
Version 3.47
Latest signed off version: v3.0
(22 Mar 2023)
Component of the following Super Panels:
Unexplained death in infancy and sudden unexplained death in childhood
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- South West GLH
- MetBioNet
- Expert Review Green
- MetBioNet
- South West GLH
- Expert Review Green
Phenotypes
- CPT II deficiency, infantile, OMIM:600649
- CPT II deficiency, lethal neonatal, OMIM:608836
- CPT II deficiency, myopathic, stress-induced, OMIM:255110
|
Version 3.77
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
Not set
|
Sources
- Expert Review Red
- London North GLH
|
Version 1.184
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- CPT II deficiency, myopathic, stress-induced, 255110
- CPT II deficiency, infantile, 600649
- CPT II deficiency, lethal neonatal, 608836
|
Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.18
Latest signed off version: v1.7
(31 May 2023)
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Green
Phenotypes
- Exercise intolerance and rhabdomyolysis, late onset
- CPT II deficiency, myopathic, stress-induced, OMIM:255110
|