Cholestasis
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
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Early onset liver disease progressing to cirrhosis.Created: 8 Aug 2020, 8:43 a.m. | Last Modified: 8 Aug 2020, 8:43 a.m.
Panel Version: 0.71
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glycogen storage disease IV, MIM# 232500
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Glycogen storage disease IV, MIM# 232500
- 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
8 Aug 2020, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: gbe1 has been classified as Green List (High Evidence).
8 Aug 2020, Gel status: 3
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: GBE1 were changed from to Glycogen storage disease IV, MIM# 232500
8 Aug 2020, Gel status: 3
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: GBE1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
17 Nov 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: GBE1 was added gene: GBE1 was added to Cholestasis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: GBE1 was set to Unknown