Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
Gene: GBE1EnsemblGeneIds (GRCh38): ENSG00000114480
EnsemblGeneIds (GRCh37): ENSG00000114480
OMIM: 607839, Gene2Phenotype
GBE1 is in 23 panels
3 reviews
Ellen McDonagh (Genomics England Curator)
Comment on list classification: This gene will remain Red based on the review and comments from Chiara Marini Bettolo (NUTH).Created: 28 Nov 2019, 5:25 p.m. | Last Modified: 28 Nov 2019, 5:25 p.m.
Panel Version: 1.172
Chiara Marini Bettolo (NUTH)
Glycongen storage diseaseCreated: 21 Oct 2019, 1:27 p.m. | Last Modified: 21 Oct 2019, 1:27 p.m.
Panel Version: 1.97
Ana Topf (John Walton Muscular Dystrophy Research Centre)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glycogen storage disease IV, 232500
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- NHS GMS
- Yorkshire and North East GLH
- Expert Review
- Phenotypes
-
- Glycogen storage disease IV, OMIM:232500
- OMIM
- 607839
- Clinvar variants
- Variants in GBE1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Acute rhabdomyolysis
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Fetal anomalies
- Cholestasis
- White matter disorders and cerebral calcification - narrow panel
- Undiagnosed metabolic disorders
- Ketotic hypoglycaemia
- Likely inborn error of metabolism
- Inherited white matter disorders
- Hyperammonaemia
- Fetal hydrops
- Adult onset leukodystrophy
- Paediatric or syndromic cardiomyopathy
- Adult onset neurodegenerative disorder
- Intellectual disability
- Rhabdomyolysis and metabolic muscle disorders
- Arthrogryposis
- Congenital myopathy
- Childhood onset dystonia, chorea or related movement disorder
- Glycogen storage disease
- DDG2P
- Neonatal cholestasis
- Adult onset hereditary spastic paraplegia
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: GBE1 were changed from Glycogen storage disease IV, 232500 to Glycogen storage disease IV, OMIM:232500
Entity classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)Gene: gbe1 has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)Gene: gbe1 has been classified as Red List (Low Evidence).
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to GBE1.
Added New Source
Louise Daugherty (Genomics England Curator)Source Yorkshire and North East GLH was added to GBE1.
Set mode of inheritance, Set Phenotypes, Set publications
Louise Daugherty (Genomics England Curator)Mode of inheritance for gene GBE1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Glycogen storage disease IV, 232500 for gene: GBE1 Publications for gene GBE1 were changed from to 8613547
Created, Added New Source, Set mode of inheritance
Louise Daugherty (Genomics England Curator)gene: GBE1 was added gene: GBE1 was added to Limb girdle muscular dystrophy. Sources: Expert Review Mode of inheritance for gene: GBE1 was set to