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| Fetal anomalies v1.702 | COL4A1 | Arina Puzriakova reviewed gene: COL4A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.702 | COL4A1 | Arina Puzriakova Publications for gene: COL4A1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.186 | COL4A1 | Rebecca Foulger edited their review of gene: COL4A1: Added comment: Additional evidence from PMID:30712878: De novo variant identified in COL4A1 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 v0.185 | COL4A1 | Rebecca Foulger edited their review of gene: COL4A1: Added comment: Additional evidence from PMID:30266093: AD/inherited het (mosaic mother) variant identified in COL4A1 from fetal exome sequencing in Normand et al., 2018 (Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder, PMID:30266093).; Changed publications: 30266093 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.149 | COL4A1 |
Rebecca Foulger Source Expert Review Green was added to COL4A1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v0.148 | COL4A1 | Rebecca Foulger edited their review of gene: COL4A1: 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. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Action taken: Promoted COL4A1 gene rating from Amber to Green.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.110 | COL4A1 | Rebecca Foulger commented on gene: COL4A1: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for PORENCEPHALY 1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.109 | COL4A1 |
Rebecca Foulger Source Expert Review Amber was added to COL4A1. Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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| Fetal anomalies v0.7 | COL4A1 | Rebecca Foulger commented on gene: COL4A1: Rating in original PAGE file: 'both DD and IF' for PORENCEPHALY 1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3 | COL4A1 | Rebecca Foulger reviewed gene: COL4A1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | COL4A1 |
Rebecca Foulger gene: COL4A1 was added gene: COL4A1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: COL4A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: COL4A1 were set to PORENCEPHALY 1 |
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