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Fetal anomalies v0.318 | FGFR2 | Rebecca Foulger edited their review of gene: FGFR2: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.273 | FGFR2 | Rebecca Foulger edited their review of gene: FGFR2: 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 heterozygous de novo variant in FGFR2 in a case where the main ultrasound finding was Fontal bossing, talipes, syndactyly, abducted thumbs (Table 1).; Changed rating: AMBER; Changed phenotypes: Fontal bossing, talipes, syndactyly, abducted thumbs | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.259 | FGFR2 | Rebecca Foulger Publications for gene: FGFR2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | FGFR2 | Rebecca Foulger edited their review of gene: FGFR2: 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 | FGFR2 | Rebecca Foulger commented on gene: FGFR2: DDG2P rating in original PAGE list: Confirmed for CROUZON SYNDROME, Confirmed for APERT SYNDROME, Confirmed for LACRIMO-AURICULO-DENTO-DIGITAL SYNDROME, Confirmed for FAMILIAL SCAPHOCEPHALY SYNDROME, Confirmed for JACKSON-WEISS SYNDROME, Confirmmed for ANTLEY-BIXLER SYNDROME, Confirmed for BEARE-STEVENSON CUTIS GYRATA SYNDROME, and Confirmed for ACROCEPHALOSYNDACTYLY TYPE V. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.3 | FGFR2 | Rebecca Foulger reviewed gene: FGFR2: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.1 | FGFR2 | Rebecca Foulger Added phenotypes ACROCEPHALOSYNDACTYLY TYPE V for gene: FGFR2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.1 | FGFR2 | Rebecca Foulger Added phenotypes BEARE-STEVENSON CUTIS GYRATA SYNDROME for gene: FGFR2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.1 | FGFR2 | Rebecca Foulger Added phenotypes ANTLEY-BIXLER SYNDROME for gene: FGFR2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.1 | FGFR2 | Rebecca Foulger Added phenotypes JACKSON-WEISS SYNDROME for gene: FGFR2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.1 | FGFR2 | Rebecca Foulger Added phenotypes FAMILIAL SCAPHOCEPHALY SYNDROME for gene: FGFR2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.1 | FGFR2 | Rebecca Foulger Added phenotypes LACRIMO-AURICULO-DENTO-DIGITAL SYNDROME for gene: FGFR2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.1 | FGFR2 | Rebecca Foulger Added phenotypes APERT SYNDROME for gene: FGFR2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.1 | FGFR2 |
Rebecca Foulger gene: FGFR2 was added gene: FGFR2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: FGFR2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: FGFR2 were set to CROUZON SYNDROME |