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| Congenital myopathy v4.15 | GBE1 | Achchuthan Shanmugasundram Tag Q1_23_NHS_review tag was added to gene: GBE1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v4.15 | GBE1 | Achchuthan Shanmugasundram Tag Q1_23_promote_green tag was added to gene: GBE1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v4.15 | GBE1 | Achchuthan Shanmugasundram Classified gene: GBE1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v4.15 | GBE1 |
Achchuthan Shanmugasundram Added comment: 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). |
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| Congenital myopathy v4.15 | GBE1 | Achchuthan Shanmugasundram Gene: gbe1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v4.14 | GBE1 | Achchuthan Shanmugasundram reviewed gene: GBE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23218673, 26578207, 30303820, 30569318; Phenotypes: Glycogen storage disease IV, OMIM:232500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v4.14 | GBE1 | Achchuthan Shanmugasundram Publications for gene: GBE1 were set to PMID: 23218673; 30303820; PMID: 26578207 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v4.2 | GBE1 |
Anna Sarkozy gene: GBE1 was added gene: GBE1 was added to Congenital myopathy. Sources: Literature,Expert Review Mode of inheritance for gene: GBE1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GBE1 were set to PMID: 23218673; 30303820; PMID: 26578207 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 Review for gene: GBE1 was set to GREEN Added comment: 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 |
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