This Panel is marked as Internal
Paediatric or syndromic cardiomyopathy - previous panel
Gene: GBE1
GBE1 (1,4-alpha-glucan branching enzyme 1)
EnsemblGeneIds (GRCh38): ENSG00000114480
EnsemblGeneIds (GRCh37): ENSG00000114480
OMIM: 607839, Gene2Phenotype
GBE1 is in 23 panels
EnsemblGeneIds (GRCh38): ENSG00000114480
EnsemblGeneIds (GRCh37): ENSG00000114480
OMIM: 607839, Gene2Phenotype
GBE1 is in 23 panels
0 reviews
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- South West GLH
- OMIM
- 607839
- Clinvar variants
- Variants in GBE1
- Penetrance
- None
- Panels with this gene
-
- Cholestasis
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Childhood onset dystonia, chorea or related movement disorder
- Undiagnosed metabolic disorders
- Ketotic hypoglycaemia
- Adult onset neurodegenerative disorder
- Inherited white matter disorders
- Hyperammonaemia
- Fetal hydrops
- Arthrogryposis
- Adult onset leukodystrophy
- Paediatric or syndromic cardiomyopathy
- Likely inborn error of metabolism
- Rhabdomyolysis and metabolic muscle disorders
- Intellectual disability
- Congenital myopathy
- Glycogen storage disease
- Fetal anomalies
- DDG2P
- Neonatal cholestasis
- Adult onset hereditary spastic paraplegia
- White matter disorders and cerebral calcification - narrow panel
- Acute rhabdomyolysis
History Filter Activity
21 Feb 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance
Ellen McDonagh (Genomics England Curator)gene: GBE1 was added gene: GBE1 was added to Paediatric or syndromic cardiomyopathy. Sources: South West GLH Mode of inheritance for gene: GBE1 was set to BIALLELIC, autosomal or pseudoautosomal