Congenital myopathy

Gene: GBE1

Green List (high evidence)

The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.

Created: 26 Sep 2024, 10:39 a.m. | Last Modified: 26 Sep 2024, 10:39 a.m.

Panel Version: 4.42

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

• 23218673
• 26578207
• 30303820
• 30569318

Green List (high evidence)

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 Review

Created: 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

• PMID: 23218673
• 30303820
• PMID: 26578207

Mode of pathogenicity
Other