Leukodystrophy - adult onset
Gene: GBE1
GBE1 (1,4-alpha-glucan branching enzyme 1)
EnsemblGeneIds (GRCh38): ENSG00000114480
EnsemblGeneIds (GRCh37): ENSG00000114480
OMIM: 607839, Gene2Phenotype
GBE1 is in 20 panels
EnsemblGeneIds (GRCh38): ENSG00000114480
EnsemblGeneIds (GRCh37): ENSG00000114480
OMIM: 607839, Gene2Phenotype
GBE1 is in 20 panels
1 review
Kaitlyn Dianna Weldon (University of Melbourne)
a well-established phenotype of GBE1 related diseases is white matter changesCreated: 12 Sep 2023, 11:51 p.m. | Last Modified: 12 Sep 2023, 11:51 p.m.
Panel Version: 0.109
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
adult polyglucosan body disease MONDO:0009897
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Royal Melbourne Hospital
- Expert Review Green
- Phenotypes
-
- Polyglucosan body disease, adult form, 263570
- OMIM
- 607839
- Clinvar variants
- Variants in GBE1
- Penetrance
- None
- 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
30 Dec 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: GBE1 was added gene: GBE1 was added to Leukodystrophy - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: GBE1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GBE1 were set to Polyglucosan body disease, adult form, 263570