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| Fetal anomalies v0.222 | COL6A2 | Rebecca Foulger edited their review of gene: COL6A2: 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. Additional notes from clinical review: Both conditions have features that would present. Keep Mode of inhertiance as both monoallelic and biallelic.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.152 | COL6A2 | Rebecca Foulger commented on gene: COL6A2: COL6A2 was added to the panel from the Additional PAGE list, where it is listed with both monoallelic and biallelic inheritance and Confirmed DD-G2P ratings for both. In OMIM, inheritance is listed as 'AR and AD' for both 'Bethlem myopathy 1, 158810' and 'Ullrich congenital muscular dystrophy 1, 254090' | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | COL6A2 | Rebecca Foulger reviewed gene: COL6A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | COL6A2 | Rebecca Foulger Added phenotypes Ullrich congenital muscular dystrophy 1 254090 for gene: COL6A2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | COL6A2 |
Rebecca Foulger gene: COL6A2 was added gene: COL6A2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: COL6A2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: COL6A2 were set to Bethlem myopathy 1 158810 |
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