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| Fetal anomalies v0.226 | MAFB |
Rebecca Foulger Source Expert Review Green was added to MAFB. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v0.225 | MAFB | Rebecca Foulger edited their review of gene: MAFB: 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. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.89 | MAFB | Rebecca Foulger Classified gene: MAFB as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.89 | MAFB | Rebecca Foulger Added comment: Comment on list classification: Originally rated as Amber based on different DDG2P/PAGE ratings for different disorders. Kept rating as Amber following comment from Deidre Cilliers that phenotype is not fetally-relevant. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.89 | MAFB | Rebecca Foulger Gene: mafb has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.89 | MAFB | Rebecca Foulger Classified gene: MAFB as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.89 | MAFB | Rebecca Foulger Added comment: Comment on list classification: Originally rated as Amber based on different DDG2P/PAGE ratings for different disorders. Kept rating as Amber following comment from Deidre Cilliers that phenotype is not fetally-relevant. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.89 | MAFB | Rebecca Foulger Gene: mafb has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.89 | MAFB | Rebecca Foulger Classified gene: MAFB as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.89 | MAFB | Rebecca Foulger Added comment: Comment on list classification: Originally rated as Amber based on different DDG2P/PAGE ratings for different disorders. Kept rating as Amber following comment from Deidre Cilliers that phenotype is not fetally-relevant. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.89 | MAFB | Rebecca Foulger Gene: mafb has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.88 | MAFB | Rebecca Foulger commented on gene: MAFB: Communication from Deirdre Cilliers, Oxford University Hospitals (via email, February 2019): No [Would not include MAFB on the Fetal anomalies panel]: Not usually manifesting in the prenatal setting. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3 | MAFB | Rebecca Foulger Tag watchlist tag was added to gene: MAFB. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3 | MAFB | Rebecca Foulger commented on gene: MAFB: 'watchlist' tag added to highlight different DD-G2P ratings for this gene. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3 | MAFB | Rebecca Foulger reviewed gene: MAFB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | MAFB | Rebecca Foulger Added phenotypes Duane Syndrome, Aberrant Extraocular Muscle Innervation, and Inner-Ear Defects for gene: MAFB | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | MAFB |
Rebecca Foulger gene: MAFB was added gene: MAFB was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: MAFB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: MAFB were set to MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME |
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