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| Fetal anomalies v0.161 | LGI4 | Rebecca Foulger commented on gene: LGI4: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.63 | LGI4 | Rebecca Foulger edited their review of gene: LGI4: Added comment: Additional details for change of rating from Amber ('probable' PAGE rating) to Green: Phenotype is fetally-relevant, and rated green on the 'Arthrogryposis', 'Congenital myopathy', 'Neuromuscular disorders' and 'Intellectual disability' panels. Sufficient evidence to support causation: 4 unrelated families with neurogenic arthrogryposis multiplex congenita with myelin defect (MIM:617468) and homozygous/compound heterozygous LGI4 variants from PMID:28318499 (Xue et al 2017).; Changed rating: GREEN; Changed publications: 28318499; Changed phenotypes: Arthrogryposis multiplex congenita, neurogenic, with myelin defect, 617468 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.24 | LGI4 | Rebecca Foulger Classified gene: LGI4 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.24 | LGI4 | Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green: Rated Green on relevant V1 panel(s) PLUS phenotype (ARTHROGRYPOSIS MULTIPLEX CONGENITA) appropriate for fetal panel, as noted by Helen Brittain and Anna de Burca (Genomics England Clinical team). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.24 | LGI4 | Rebecca Foulger Gene: lgi4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | LGI4 | Rebecca Foulger reviewed gene: LGI4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | LGI4 |
Rebecca Foulger gene: LGI4 was added gene: LGI4 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: LGI4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LGI4 were set to ARTHROGRYPOSIS MULTIPLEX CONGENITA |
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