Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.4
|
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
- failure to thrive in addition to hepatomegaly van have neuromuscular adult form ( polyglucosan body ideas which presents with neurogenic bladder, gait difficulties
- Glycogen storage disease IV, 232500
- Polyglucosan body disease, adult form, 263570
- Glycogen Storage Disease Type IV
- Glycogen Storage Disorders- Liver
- Glycogen Storage Disorders- Muscle
- Glycogen Storage Disease
|
Level 3: Urea Cycle disorders
Level 2: Metabolic disorders
Version 1.8
|
review
|
Not set
|
Sources
- Emory Genetics Laboratory
|
Level 3: Liver disease
Level 2: Gastroenterological disorders
Version 1.17
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Victorian Clinical Genetics Services
Phenotypes
- Glycogen storage disease IV 232500
|
Level 3: Fetal disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.23
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Other
Phenotypes
- Glycogen storage disease IV, 232500
- GSD4
- Fetal hydrops (in perinatal or congenital neuromuscular forms)
- Andersen disease
|
Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.43
Signed off v.1.34
on 4 Mar 2020
Component of the following Super Panels:
Hypotonic infant
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 232500
|
Version 5.92
Signed off v.5.43
on 4 Mar 2020
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Glycogen storage disease IV
|
Version 1.32
Signed off v.1.12
on 2 Mar 2020
Component of the following Super Panels:
White matter disorders - childhood onset
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- General Leukodystrophy & Mitochondrial Leukoencephalopathy
- Polyglucosan body disease, adult form
- Polyglucosan Body Disease (PGBD)
|
Version 1.78
Signed off v.1.21
on 20 Aug 2020
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert list
- Expert Review Amber
Phenotypes
- Glycogen storage disease IV, OMIM:232500
Tags
|
Version 1.4
Signed off v.1.2
on 18 Feb 2020
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Wessex and West Midlands GLH
- London North GLH
- Expert Review Green
Phenotypes
- Glycogen storage disease IV 232500
|
Version 1.7
Signed off v.1.6
on 15 Oct 2020
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- NHS GMS
- Yorkshire and North East GLH
Phenotypes
- Polyglucosan body disease, adult form, 263570
|
Level 3: White matter disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.87
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Expert list
Phenotypes
- Polyglucosan Body Disease (PGBD)
- General Leukodystrophy & Mitochondrial Leukoencephalopathy
- Polyglucosan body disease, adult form
Tags
|
Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.52
Signed off v.3.2
on 13 Feb 2020
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- Expert list
Phenotypes
- Glycogen storage disease IV 232500
|
Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 2.15
Signed off v.2.4
on 2 Mar 2020
Component of the following Super Panels:
Hypotonic infant
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, 232500
|
Version 1.16
Signed off v.1.12
on 15 Oct 2020
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Polyglucosan body disease, adult form MIM#263570
|
Version 2.38
Signed off v.2.31
on 8 Oct 2020
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Polyglucosan body disease, adult form MIM#263570
|
Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.440
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Literature
Phenotypes
- Glycogen storage disease type IV, Andersen (Glycogen storage disorders)
- failure to thrive in addition to hepatomegaly van have neuromuscular adult form ( polyglucosan body ideas which presents with neurogenic bladder, gait difficulties
- Glycogen storage disease IV, 232500
- Polyglucosan body disease, adult form, 263570
- Glycogen Storage Disease Type IV
- Glycogen Storage Disorders- Liver
- Glycogen Storage Disorders- Muscle
- Glycogen Storage Disease
|
Version 2.50
Signed off v.2.3
on 17 Feb 2020
Component of the following Super Panels:
Hypotonic infant
Paediatric disorders
White matter disorders - childhood onset
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- London North GLH
- NHS GMS
- Expert Review Green
Phenotypes
- Glycogen storage disease IV, 232500
- Glycogen Storage Disease
- Glycogen Storage Disorders- Liver
- Glycogen storage disease type IV, Andersen (Glycogen storage disorders)
- Glycogen Storage Disorders- Muscle
- Glycogen Storage Disease Type IV
- failure to thrive in addition to hepatomegaly van have neuromuscular adult form ( polyglucosan body ideas which presents with neurogenic bladder, gait difficulties
- Polyglucosan body disease, adult form, 263570
|
Version 1.185
Signed off v.1.92
on 21 Aug 2020
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- PAGE Additional Gene List
- Expert Review Green
Phenotypes
- Glycogen storage disease IV
- Polyglucosan body disease, adult form
- Fetal akinesia deformation sequence
|
Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.740
Signed off v.3.2
on 13 Feb 2020
Component of the following Super Panels:
Hypotonic infant
Paediatric disorders
White matter disorders - childhood onset
|
review
|
Not set
|
Sources
- Victorian Clinical Genetics Services
|
Version 1.18
Signed off v.1.4
on 19 Feb 2020
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Red
- MetBioNet
- MetBioNet
- South West GLH
Phenotypes
- DCM
- Glycogen Storage Disease Type IV
- Hypertrophic-hypocontractile cardiomyopathy
- Polyglucosan body disease, adult form, 263570
- Glycogen Storage Disease
- failure to thrive in addition to hepatomegaly van have neuromuscular adult form ( polyglucosan body ideas which presents with neurogenic bladder, gait difficulties
- Glycogen storage disease type IV (brancher enzyme deficiency), neuromuscular form
- hypotonia, exercise intolerance, polyglucosan bodies in affected tissues
- Glycogen storage disease type IV, Andersen (Glycogen storage disorders)
- Glycogen Storage Disorders- Liver
- Glycogen Storage Disorders- Muscle
- Glycogen storage disease IV, 232500
|
Version 1.74
Signed off v.1.58
on 6 Oct 2020
|
review
|
Not set
|
Sources
- Expert Review Red
- London North GLH
|
Version 1.43
|
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
|