Congenital muscular dystrophy and congenital myopathy
Gene: GBE1EnsemblGeneIds (GRCh38): ENSG00000114480
EnsemblGeneIds (GRCh37): ENSG00000114480
OMIM: 607839, Gene2Phenotype
GBE1 is in 23 panels
3 reviews
Arina Puzriakova (Genomics England Curator)
The rating of this gene has been updated to Green and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.Created: 2 May 2024, 3:45 p.m. | Last Modified: 2 May 2024, 3:45 p.m.
Panel Version: 0.229
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Achchuthan Shanmugasundram (Genomics England Curator)
Comment on list classification: As reviewed by Anna Sarkozy (Great Ormond Street Hospital), biallelic variants in GBE1 has been reported in sufficient number of cases presenting with fetal akinesia/hypokinesia, arthrogryposis multiplex congenita and severe congenital myopathies. Hence, this gene can be promoted to GREEN rating at the next major review.
This gene has been associated with phenotypes in both OMIM and Gene2Phenotype (with 'definitive' rating).Created: 28 Mar 2023, 6:38 p.m. | Last Modified: 28 Mar 2023, 6:38 p.m.
Panel Version: 4.15
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glycogen storage disease IV, OMIM:232500
Publications
Anna Sarkozy (Great Ormond Street Hospital)
recessive pathogenic variants in GBE1 gene responsible for GSD IV, have now been identified in a relevant number of patients presenting with severe early onset neuromuscular conditions, ranging from fetal akinesia deformation sequence, to arthrogryposis multiplex congenita and severe forms of congenital onset myopathies. given the major clinical overlap with severe forms of congenital myopathies, this gene should be considered in differential and included in the R81 panel and tested in patients with possible congenital myopathy.
Sources: Literature, Expert ReviewCreated: 24 Mar 2023, 10:56 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
arthrogryposis multiplex congenita; foetal akinesias; fetal akinesia deformation sequence; severe congenital myopathy; multiple pterygium syndrome
Publications
Mode of pathogenicity
Other
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Expert Review
- Literature
- Phenotypes
-
- arthrogryposis multiplex congenita
- foetal akinesias
- fetal akinesia deformation sequence
- severe congenital myopathy
- multiple pterygium syndrome
- OMIM
- 607839
- Clinvar variants
- Variants in GBE1
- Penetrance
- unknown
- Publications
- Mode of Pathogenicity
- Other
- Panels with this gene
-
- Cholestasis
- Likely inborn error of metabolism
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Undiagnosed metabolic disorders
- Ketotic hypoglycaemia
- Adult onset neurodegenerative disorder
- Inherited white matter disorders
- Hyperammonaemia
- Fetal hydrops
- Arthrogryposis
- Adult onset leukodystrophy
- Childhood onset dystonia, chorea or related movement disorder
- Paediatric or syndromic cardiomyopathy
- 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
Removed Tag, Removed Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q1_23_promote_green was removed from gene: GBE1. Tag Q1_23_NHS_review was removed from gene: GBE1.
Added New Source, Added New Source, Status Update
Achchuthan Shanmugasundram (Genomics England Curator)Source NHS GMS was added to GBE1. Source Expert Review Green was added to GBE1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Created, Added New Source, Added Tag, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance, Set mode of pathogenicity
Achchuthan Shanmugasundram (Genomics England Curator)gene: GBE1 was added gene: GBE1 was added to Congenital muscular dystrophy and congenital myopathy. Sources: Literature,Expert Review Amber,Expert Review Q1_23_promote_green, Q1_23_NHS_review tags were added to gene: GBE1. Mode of inheritance for gene: GBE1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GBE1 were set to 23218673; 26578207; 30303820 Phenotypes for gene: GBE1 were set to arthrogryposis multiplex congenita; foetal akinesias; fetal akinesia deformation sequence; severe congenital myopathy; multiple pterygium syndrome Penetrance for gene: GBE1 were set to unknown Mode of pathogenicity for gene: GBE1 was set to Other