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| Fetal anomalies v0.273 | FLNA | Rebecca Foulger edited their review of gene: FLNA: Added comment: Additional support for inclusion of gene on panel comes from Yates et al., 2017 (PMID:28425981, Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development). Yates et al., identified a hemizgyous likely-pathogenic variant in FLNA in a case where the main ultrasound finding was CNS malformations (Table 1). A heterozygous variant in PTPN11 was also reported, which the authors classify as a Possible result.; Changed rating: AMBER; Changed phenotypes: CNS malformations | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.264 | FLNA | Rebecca Foulger Publications for gene: FLNA were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.186 | FLNA | Rebecca Foulger edited their review of gene: FLNA: Added comment: Additional evidence from PMID:30712878: De novo variant identified in FLNA 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 | FLNA | Rebecca Foulger edited their review of gene: FLNA: Added comment: Additional evidence from PAGE study: Potentially clinically useful variant identified in this gene from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.134 | FLNA | Rebecca Foulger edited their review of gene: FLNA: 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 | FLNA | Rebecca Foulger commented on gene: FLNA: DDG2P rating in original PAGE list: Confirmed for OTOPALATODIGITAL SYNDROME TYPE 1, Confirmed for EPILEPTIC ENCEPHALOPATHY, Confirmed for TERMINAL OSSEOUS DYSPLASIA, Confirmed for MELNICK-NEEDLES SYNDROME, Confirmed for X-LINKED CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION, Confirmed for OTOPALATODIGITAL SYNDROME TYPE 2, Confirmed for FRONTOMETAPHYSEAL DYSPLASIA, Confirmed for FG SYNDROME TYPE 2 and Confirmed for PERIVENTRICULAR NODULAR HETEROTOPIA TYPE 1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3 | FLNA | Rebecca Foulger reviewed gene: FLNA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | FLNA | Rebecca Foulger Added phenotypes PERIVENTRICULAR NODULAR HETEROTOPIA TYPE 1 for gene: FLNA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | FLNA | Rebecca Foulger Added phenotypes FG SYNDROME TYPE 2 for gene: FLNA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | FLNA | Rebecca Foulger Added phenotypes FRONTOMETAPHYSEAL DYSPLASIA for gene: FLNA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | FLNA | Rebecca Foulger Added phenotypes OTOPALATODIGITAL SYNDROME TYPE 2 for gene: FLNA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | FLNA | Rebecca Foulger Added phenotypes X-LINKED CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION for gene: FLNA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | FLNA | Rebecca Foulger Added phenotypes MELNICK-NEEDLES SYNDROME for gene: FLNA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | FLNA | Rebecca Foulger Added phenotypes TERMINAL OSSEOUS DYSPLASIA for gene: FLNA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | FLNA | Rebecca Foulger Added phenotypes EPILEPTIC ENCEPHALOPATHY for gene: FLNA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | FLNA |
Rebecca Foulger gene: FLNA was added gene: FLNA was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: FLNA was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: FLNA were set to OTOPALATODIGITAL SYNDROME TYPE 1 |
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