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| Fetal anomalies v0.186 | FLNB | Rebecca Foulger edited their review of gene: FLNB: Added comment: Additional evidence from PMID:30712878: De novo variant identified in FLNB from fetal exome sequencing in Petrovski et al., 2019 (Whole-exome sequencing in the evaluation of fetal stuctural anomalies: a prospective cohort study, PMID:30712878).; Changed publications: 30712878 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.183 | FLNB | Rebecca Foulger edited their review of gene: FLNB: Added comment: Additional evidence from PAGE study: Diagnostic Heterozygous variant identified in FLNB from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.134 | FLNB | Rebecca Foulger edited their review of gene: FLNB: 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 a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | FLNB | Rebecca Foulger commented on gene: FLNB: DDG2P rating in original PAGE list: Confirmed for SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME, Confirmed for BOOMERANG DYSPLASIA, Confirmed for AUTOSOMAL DOMINANT LARSEN SYNDROME, Confirmed for ATELOSTEOGENESIS TYPE 3 and Confirmed for ATELOSTEOGENESIS TYPE 1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3 | FLNB | Rebecca Foulger reviewed gene: FLNB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | FLNB | Rebecca Foulger Added phenotypes ATELOSTEOGENESIS TYPE 1 for gene: FLNB | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | FLNB | Rebecca Foulger Added phenotypes ATELOSTEOGENESIS TYPE 3 for gene: FLNB | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | FLNB | Rebecca Foulger Added phenotypes AUTOSOMAL DOMINANT LARSEN SYNDROME for gene: FLNB | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | FLNB | Rebecca Foulger Added phenotypes BOOMERANG DYSPLASIA for gene: FLNB | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | FLNB |
Rebecca Foulger gene: FLNB was added gene: FLNB was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: FLNB was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: FLNB were set to SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME |
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