Level 3: Specific metabolic abnormalities
Level 2: Metabolic 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
- Radboud University Medical Center, Nijmegen
- UKGTN
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Glycogen storage disease XIV, 612934
- Congenital disorder of glycosylation, type It, 614921
- Glycogen Storage Disease Type XIV
- Glycogen Storage Disorders- Muscle
- Glycogen Storage Disease
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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
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review
|
BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- Literature
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
Phenotypes
- Congenital disorder of glycosylation, type It 614921
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Version 19.201
Latest signed off version: v19.1
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
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Sources
Phenotypes
- Congenital disorder of glycosylation, type It
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Version 2.4
Latest signed off version: v2.0
(22 Mar 2023)
|
review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- NHS GMS
- Wessex and West Midlands GLH
- Expert Review Green
Phenotypes
- Congenital disorder of glycosylation, type It 614921
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Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 4.18
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Hereditary ataxia and cerebellar anomalies - childhood onset
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- UKGTN
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Emory Genetics Laboratory
Phenotypes
- Congenital disorder of deglycosylation 615273
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Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.615
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Literature
Phenotypes
- Glycogen storage disease type XIV (Glycogen storage disorders)
- Glycogen storage disease XIV, 612934
- Congenital disorder of glycosylation, type It, 614921
- Glycogen Storage Disease Type XIV
- Glycogen Storage Disorders- Muscle
- Glycogen Storage Disease
- Congenital disorder of deglycosylation 615273
|
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
|
review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- London North GLH
- NHS GMS
- Expert Review Green
Phenotypes
- Glycogen Storage Disease
- Congenital disorder of deglycosylation 615273
- Glycogen storage disease type XIV (Glycogen storage disorders)
- Congenital disorder of glycosylation, type It, 614921
- Glycogen Storage Disorders- Muscle
- Glycogen Storage Disease Type XIV
- Glycogen storage disease XIV, 612934
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Version 3.146
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- PAGE DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IT
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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
|
Sources
- DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IT 614921
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Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 4.108
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Amber
- Victorian Clinical Genetics Services
Phenotypes
- Congenital disorder of glycosylation, type It, OMIM:14921
Tags
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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
|
Sources
- Expert Review Red
- Victorian Clinical Genetics Services
- BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
- Congenital disorder of glycosylation, type It, 614921
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Version 3.74
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
Not set
|
Sources
- Expert Review Red
- London North GLH
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Version 1.182
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Congenital disorder of glycosylation, type It, 614921
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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
- Congenital disorder of glycosylation, type It, OMIM:614921
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