Cardiomyopathy_Paediatric
Gene: GBE1EnsemblGeneIds (GRCh38): ENSG00000114480
EnsemblGeneIds (GRCh37): ENSG00000114480
OMIM: 607839, Gene2Phenotype
GBE1 is in 20 panels
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- MetBioNet
- South West GLH
- Expert Review Red
- NHS GMS
- Phenotypes
-
- Glycogen Storage Disorders- Liver
- Glycogen Storage Disorders- Muscle
- Glycogen storage disease type IV, Andersen (Glycogen storage disorders)
- Glycogen storage disease IV, 232500
- hypotonia, exercise intolerance, polyglucosan bodies in affected tissues
- 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
- DCM
- Polyglucosan body disease, adult form, 263570
- Glycogen storage disease type IV (brancher enzyme deficiency), neuromuscular form
- Hypertrophic-hypocontractile cardiomyopathy
- Glycogen Storage Disease
- OMIM
- 607839
- Clinvar variants
- Variants in GBE1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Rhabdomyolysis and Metabolic Myopathy
- Mackenzie's Mission_Reproductive Carrier Screening
- Leukodystrophy - adult onset
- Prepair 1000+
- Cholestasis
- Cardiomyopathy_Paediatric
- Liver Failure_Paediatric
- Hereditary Neuropathy - complex
- BabyScreen+ newborn screening
- Hydrops fetalis
- Intellectual disability syndromic and non-syndromic
- Motor Neurone Disease
- Regression
- Hereditary Spastic Paraplegia - adult onset
- Glycogen Storage Diseases
- Fetal anomalies
- Additional findings_Paediatric
- Arthrogryposis
- Mendeliome
- Prepair 500+
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: GBE1 was added gene: GBE1 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,South West GLH,MetBioNet Mode of inheritance for gene: GBE1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GBE1 were set to 27604308 Phenotypes for gene: GBE1 were set to Glycogen Storage Disorders- Liver; Glycogen Storage Disorders- Muscle; Glycogen storage disease type IV, Andersen (Glycogen storage disorders); Glycogen storage disease IV, 232500; hypotonia, exercise intolerance, polyglucosan bodies in affected tissues; 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; DCM; Polyglucosan body disease, adult form, 263570; Glycogen storage disease type IV (brancher enzyme deficiency), neuromuscular form; Hypertrophic-hypocontractile cardiomyopathy; Glycogen Storage Disease