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
- UKGTN
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Literature
Phenotypes
- hepatomegaly and mild hypoglycaemia
- Glycogen storage disease VI, 232700
- Glycogen Storage Disease Type VI
- Glycogen Storage Disorders- Liver
- Glycogen Storage Disease
|
Level 3: Urea Cycle disorders
Level 2: Metabolic disorders
Version 1.21
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review
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Not set
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Sources
- Emory Genetics Laboratory
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Version 2.4
Latest signed off version: v2.0
(22 Mar 2023)
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review
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BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Wessex and West Midlands GLH
- London North GLH
- Expert Review Green
Phenotypes
- Glycogen storage disease VI 232700
|
Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.617
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Literature
Phenotypes
- Glycogen storage disease type VI, Hers (Glycogen storage disorders)
- hepatomegaly and mild hypoglycaemia
- Glycogen storage disease VI, 232700
- Glycogen Storage Disease Type VI
- Glycogen Storage Disorders- Liver
- Glycogen Storage Disease
|
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
- Glycogen Storage Disease
- Glycogen Storage Disorders- Liver
- Glycogen storage disease VI, 232700
- hepatomegaly and mild hypoglycaemia
- Glycogen Storage Disease Type VI
- Glycogen storage disease type VI, Hers (Glycogen storage disorders)
|
Version 3.169
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Red
- PAGE DD-Gene2Phenotype
Phenotypes
- GLYCOGEN STORAGE DISEASE TYPE VI
|
Version 3.90
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
- GLYCOGEN STORAGE DISEASE TYPE VI 232700
|
Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.550
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
- Glycogen storage disease VI, 232700
|
Version 3.78
Latest signed off version: v3.0
(22 Mar 2023)
|
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
- Glycogen storage disease VI, 232700
|