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| Fetal anomalies v0.228 | TAF1 | Rebecca Foulger edited their review of gene: TAF1: 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 v0.9 | TAF13 | Rebecca Foulger commented on gene: TAF13: DDG2P rating in original PAGE list: Probable for Autosomal-Recessive Intellectual Disability and Microcephaly | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | TAF1 | Rebecca Foulger reviewed gene: TAF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3 | TAF13 | Rebecca Foulger reviewed gene: TAF13: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | TAF13 |
Rebecca Foulger gene: TAF13 was added gene: TAF13 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: TAF13 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TAF13 were set to Autosomal-Recessive Intellectual Disability and Microcephaly |
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| Fetal anomalies v0.1 | TAF1 |
Rebecca Foulger gene: TAF1 was added gene: TAF1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: TAF1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: TAF1 were set to Dysmorphic Features, Intellectual Disability, and Neurological Manifestations |
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