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Fetal anomalies v0.223 BGN Rebecca Foulger Source Expert Review Green was added to BGN.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v0.222 BGN Rebecca Foulger edited their review of gene: BGN: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Originally rated Amber based on DDG2P Disease confidence of 'both DD and IF' for at least one disorder. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: Review of BGN as Amber by Anna was before group review of the panel began. Following group review, it was decided that BGN should be included for the skeletal phenotype (Spondyloepimetaphyseal dysplasia) with X-linked RECESSIVE inheritance.; Changed rating: GREEN; Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v0.49 BGN Rebecca Foulger commented on gene: BGN: Removed watchlist tag following clinical review by Anna de Burca.
Fetal anomalies v0.49 BGN Rebecca Foulger Tag watchlist was removed from gene: BGN.
Fetal anomalies v0.49 BGN Rebecca Foulger Classified gene: BGN as Amber List (moderate evidence)
Fetal anomalies v0.49 BGN Rebecca Foulger Added comment: Comment on list classification: Originally assigned an Amber rating because of different PAGE/DDG2P ratings for different disorders. Kept rating as Amber based on Anna's review: sufficient evidence for TAAD causation but phenotype presents later.
Fetal anomalies v0.49 BGN Rebecca Foulger Gene: bgn has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.48 BGN Rebecca Foulger Added comment: Comment on mode of inheritance: MOI listed in OMIM as XL for Meester-Loeys syndrome, and XLR for Spondyloepimetaphyseal dysplasia, X-linked.
Fetal anomalies v0.48 BGN Rebecca Foulger Mode of inheritance for gene: BGN was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v0.47 BGN Rebecca Foulger Phenotypes for gene: BGN were changed from Severe syndromic form of thoracic aortic aneurysm & dissection; X-Linked Spondyloepimetaphyseal Dysplasia to Severe syndromic form of thoracic aortic aneurysm & dissection; X-Linked Spondyloepimetaphyseal Dysplasia; Meester-Loeys syndrome, 300989; Spondyloepimetaphyseal dysplasia, X-linked, 300106
Fetal anomalies v0.46 BGN Rebecca Foulger Publications for gene: BGN were set to
Fetal anomalies v0.41 BGN Anna de Burca reviewed gene: BGN: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 27236923, 27632686; Phenotypes: Spondyloepimetaphyseal dysplasia, X-linked, Meester-Loeys syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.3 BGN Rebecca Foulger Tag watchlist tag was added to gene: BGN.
Fetal anomalies v0.3 BGN Rebecca Foulger commented on gene: BGN: 'watchlist' tag added to highlight different DD-G2P ratings for this gene.
Fetal anomalies v0.3 BGN Rebecca Foulger reviewed gene: BGN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.1 BGN Rebecca Foulger Added phenotypes Severe syndromic form of thoracic aortic aneurysm & dissection for gene: BGN
Fetal anomalies v0.1 BGN Rebecca Foulger gene: BGN was added
gene: BGN was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: BGN was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: BGN were set to X-Linked Spondyloepimetaphyseal Dysplasia