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
- Glycogen storage disease IV, OMIM:232500
- Polyglucosan body disease, adult form, OMIM:263570
|
Level 3: Urea Cycle disorders
Level 2: Metabolic disorders
Version 1.21
|
review
|
Not set
|
Sources
- Emory Genetics Laboratory
|
Level 3: Liver disease
Level 2: Gastroenterological disorders
Version 1.26
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Victorian Clinical Genetics Services
Phenotypes
- Glycogen storage disease IV, OMIM:232500
|
Level 3: Fetal disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.64
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Other
Phenotypes
- Glycogen storage disease IV, OMIM:232500
- Fetal hydrops (in perinatal or congenital neuromuscular forms)
|
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
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- UKGTN
Phenotypes
- Glycogen storage disease IV, OMIM:232500
|
Version 19.202
Latest signed off version: v19.1
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Glycogen storage disease IV
|
Version 3.35
Latest signed off version: v3.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Polyglucosan body disease, adult form, OMIM:263570
- General Leukodystrophy & Mitochondrial Leukoencephalopathy
|
Version 3.4
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Amber
- NHS GMS
- Expert list
Phenotypes
- Glycogen storage disease IV, OMIM:232500
|
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 IV, OMIM:232500
|
Version 3.24
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- NHS GMS
- Yorkshire and North East GLH
Phenotypes
- Polyglucosan body disease, adult form, OMIM:263570
|
Level 3: White matter disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.180
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Expert list
Phenotypes
- Polyglucosan body disease, adult form, OMIM:263570
- General Leukodystrophy & Mitochondrial Leukoencephalopathy
Tags
|
Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.22
Latest signed off version: v5.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- UKGTN
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
- Expert list
Phenotypes
- Glycogen storage disease IV, OMIM:232500
|
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 Amber
- Expert Review
- Literature
Phenotypes
- arthrogryposis multiplex congenita
- foetal akinesias
- fetal akinesia deformation sequence
- severe congenital myopathy
- multiple pterygium syndrome
Tags
- Q1_23_promote_green
- Q1_23_NHS_review
|
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 IV, OMIM:232500
|
Version 3.21
Latest signed off version: v3.14
(31 Jul 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Expert list
Phenotypes
- Polyglucosan body disease, adult form, OMIM:263570
|
Version 4.47
Latest signed off version: v4.34
(31 Jul 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- NHS GMS
- Expert list
Phenotypes
- Polyglucosan body disease, adult form, OMIM:263570
- adult polyglucosan body disease, MONDO:0009897
|
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 IV, OMIM:232500
- Polyglucosan body disease, adult form, OMIM:263570
|
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 IV, OMIM:232500
- Polyglucosan body disease, adult form, OMIM:263570
|
Version 3.157
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- PAGE Additional Gene List
- Expert Review Green
Phenotypes
- Glycogen storage disease IV, OMIM:232500
- Fetal akinesia deformation sequence
|
Version 3.87
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
- GBE1-associated Glycogen storage disease IV, OMIM:232500
|
Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.536
Latest signed off version: v5.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
|
review
|
Not set
|
Sources
- Victorian Clinical Genetics Services
|
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
- NHS GMS
- Expert Review Red
- MetBioNet
- MetBioNet
- South West GLH
Phenotypes
- Glycogen storage disease IV, OMIM:232500
|
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
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Polyglucosan body disease, adult form, 263570
- Glycogen storage disease IV, 232500
|
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 IV, OMIM:232500
|