White matter disorders and cerebral calcification - narrow panel
Gene: GBE1EnsemblGeneIds (GRCh38): ENSG00000114480
EnsemblGeneIds (GRCh37): ENSG00000114480
OMIM: 607839, Gene2Phenotype
GBE1 is in 23 panels
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Polyglucosan body disease, adult form, OMIM:263570
- General Leukodystrophy & Mitochondrial Leukoencephalopathy
- OMIM
- 607839
- Clinvar variants
- Variants in GBE1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Congenital myopathy
- Arthrogryposis
- Paediatric or syndromic cardiomyopathy
- Glycogen storage disease
- Adult onset hereditary spastic paraplegia
- Neonatal cholestasis
- Fetal anomalies
- Undiagnosed metabolic disorders
- White matter disorders and cerebral calcification - narrow panel
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Rhabdomyolysis and metabolic muscle disorders
- Cholestasis
- DDG2P
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Ketotic hypoglycaemia
- Adult onset leukodystrophy
- Inherited white matter disorders
- Hyperammonaemia
- Fetal hydrops
- Adult onset neurodegenerative disorder
- Likely inborn error of metabolism
- Acute rhabdomyolysis
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: GBE1 were changed from General Leukodystrophy & Mitochondrial Leukoencephalopathy; Polyglucosan body disease, adult form; Polyglucosan Body Disease (PGBD) to Polyglucosan body disease, adult form, OMIM:263570; General Leukodystrophy & Mitochondrial Leukoencephalopathy
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked against super panel made up of the panel constituents. Ready to promote to version 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: GBE1 was added gene: GBE1 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: GBE1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GBE1 were set to 25655951 Phenotypes for gene: GBE1 were set to General Leukodystrophy & Mitochondrial Leukoencephalopathy; Polyglucosan body disease, adult form; Polyglucosan Body Disease (PGBD)