Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.9
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- UKGTN
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Literature
Phenotypes
- myopathy, cardiomyopathy and neuropathy possible but mile hepatomegaly and fasting intolerance
- Glycogen storage disease IIIa, 232400
- Glycogen storage disease IIIb, 232400
- Glycogen Storage Disease Type III
- Glycogen Storage Disorders- Liver
- Glycogen Storage Disorders- Muscle
- Glycogen Storage Disease
|
Level 3: Urea Cycle disorders
Level 2: Metabolic disorders
Version 1.21
|
review
|
Not set
|
Sources
- Emory Genetics Laboratory
|
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
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
Phenotypes
- Glycogen storage disease IIIa 232400
- Glycogen storage disease IIIb 232400
|
Version 19.202
Latest signed off version: v19.1
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Glycogen storage disease IIIa
|
Version 2.4
Latest signed off version: v2.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Wessex and West Midlands GLH
- London North GLH
- Expert Review Green
Phenotypes
- Glycogen storage disease IIIb, 232400
- Glycogen storage disease IIIa, 232400
|
Level 3: Cardiomyopathy
Level 2: Cardiovascular disorders
Version 4.7
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Sudden unexplained death or survivors of a cardiac event
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- South West GLH
- Expert list
Phenotypes
|
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
- Expert list
|
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 Red
- NHS GMS
- Yorkshire and North East GLH
- Expert Review
Phenotypes
- Glycogen storage disease IIIb, 232400
- Glycogen storage disease IIIc, 232400
|
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 III, Cori (Glycogen storage disorders)
- myopathy, cardiomyopathy and neuropathy possible but mile hepatomegaly and fasting intolerance
- Glycogen storage disease IIIa, 232400
- Glycogen storage disease IIIb, 232400
- Glycogen Storage Disease Type III
- Glycogen Storage Disorders- Liver
- Glycogen Storage Disorders- Muscle
- 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 type III, Cori (Glycogen storage disorders)
- Glycogen storage disease IIIb, 232400
- Glycogen Storage Disorders- Liver
- Glycogen Storage Disease
- myopathy, cardiomyopathy and neuropathy possible but mile hepatomegaly and fasting intolerance
- Glycogen Storage Disease Type III
- Glycogen Storage Disorders- Muscle
- Glycogen storage disease IIIa, 232400
|
Version 3.169
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- PAGE DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- GLYCOGEN STORAGE DISEASE TYPE III
|
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 III 232400
|
Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.557
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 IIIa, 232400
- Glycogen storage disease
- IIIb, 232400
|
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
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Amber
- NHS GMS
- MetBioNet
- MetBioNet
Phenotypes
- Hypertrophic-hypocontractile cardiomyopathy
- Glycogen storage disease type IIIa (debrancher enzyme deficiency)
- syndromic HCM
- Glycogen storage disease IIIb, 232400
- myopathy, cardiomyopathy and neuropathy possible but mile hepatomegaly and fasting intolerance
- Ketotic hypoglycaemia, hyperlipidaemia, raised transaminases
- Glycogen Storage Disease
- Glycogen Storage Disease Type III
- Glycogen storage disease IIIa, 232400
- Glycogen Storage Disorders- Liver
- Glycogen Storage Disorders- Muscle
- Glycogen storage disease type III, Cori (Glycogen storage disorders)
- HCM
|
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 IIIb, 232400
- Glycogen storage disease IIIa, 232400
|
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
- Glycogen storage disease IIIb, OMIM:232400
- Glycogen storage disease IIIa, OMIM:232400
|