Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 5.3
Latest signed off version: v5.0
(1 May 2024)
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
- Expert Review Red
- UKGTN
- Radboud University Medical Center, Nijmegen
- Literature
- Illumina TruGenome Clinical Sequencing Services
- Emory Genetics Laboratory
Phenotypes
- ?Congenital disorder of glycosylation, type Ii 607906
- Myasthenic syndrome, congenital, 14, with tubular aggregates 616228
- Mannosyltransferase 2 deficiency (Disorders of protein N-glycosylation)
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Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.3
Latest signed off version: v6.0
(1 May 2024)
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Red
- Emory Genetics Laboratory
- Expert list
Phenotypes
- Myasthenic syndrome, congenital, 14, with tubular aggregates 616228
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Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 4.6
Latest signed off version: v4.5
(1 May 2024)
Component of the following Super Panels:
Hypotonic infant
Other rare neuromuscular disorders
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- NHS GMS
- Wessex and West Midlands GLH
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
Phenotypes
- Myasthenic syndrome, congenital, 14, with tubular aggregates, OMIM:616228
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Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.617
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Red
- Literature
Phenotypes
- Mannosyltransferase 2 deficiency (Disorders of protein N-glycosylation)
- ?Congenital disorder of glycosylation, type Ii 607906
- Myasthenic syndrome, congenital, 14, with tubular aggregates 616228
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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
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Amber
- London North GLH
- NHS GMS
Phenotypes
- Myasthenic syndrome, congenital, 14, with tubular aggregates 616228
- Mannosyltransferase 2 deficiency (Disorders of protein N-glycosylation)
- ?Congenital disorder of glycosylation, type Ii 607906
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Version 4.1
Latest signed off version: v4.0
(1 May 2024)
|
review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- PAGE DD-Gene2Phenotype
Phenotypes
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Version 4.3
Latest signed off version: v4.0
(1 May 2024)
Component of the following Super Panels:
Paediatric disorders
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- DD-Gene2Phenotype
Phenotypes
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Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 5.10
Latest signed off version: v5.0
(1 May 2024)
Component of the following Super Panels:
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
- Wessex and West Midlands GLH
- NHS GMS
- Expert Review Red
- Victorian Clinical Genetics Services
Phenotypes
- ?Congenital disorder of glycosylation type Ii, 607906
- Myasthenic syndrome congenital 14 with tubular aggregates, 616228
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Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.13
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
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Sources
- Victorian Clinical Genetics Services
- Expert Review Red
Phenotypes
- ?Congenital disorder of glycosylation, type Ii 607906
- Myasthenic syndrome, congenital, 14, with tubular aggregates 616228
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