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| Fetal anomalies v0.183 | B3GLCT | Rebecca Foulger edited their review of gene: B3GLCT: Added comment: Additional evidence from PAGE study: Diagnostic Homozgyous variant identified in B3GLCT from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.134 | B3GLCT | Rebecca Foulger edited their review of gene: B3GLCT: Added comment: 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 Green. Additional notes from clinical review: Peters-plus syndrome itself would not be picked up, but other common features can be detected pre-natally (e.g. clefting).; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | B3GLCT | Rebecca Foulger reviewed gene: B3GLCT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | B3GLCT | Rebecca Foulger Added phenotypes PETERS-PLUS SYNDROME 261540 for gene: B3GLCT | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | B3GLCT |
Rebecca Foulger gene: B3GLCT was added gene: B3GLCT was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: B3GLCT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: B3GLCT were set to 29096039 Phenotypes for gene: B3GLCT were set to PETERS-PLUS SYNDROME 261540 |
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