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| Fetal anomalies v1.743 | COL9A3 | Arina Puzriakova Phenotypes for gene: COL9A3 were changed from MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 3 to Epiphyseal dysplasia, multiple, 3, with or without myopathy, OMIM:600969 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.135 | COL9A3 |
Rebecca Foulger Source Expert Review Red was added to COL9A3. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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| Fetal anomalies v0.134 | COL9A3 | Rebecca Foulger edited their review of gene: COL9A3: 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: Phenotype is not fetally-relevant. Action taken: Demoted COL9A3 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | COL9A3 | Rebecca Foulger commented on gene: COL9A3: DDG2P rating in original PAGE list: Confirmed for MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3 | COL9A3 | Rebecca Foulger reviewed gene: COL9A3: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | COL9A3 |
Rebecca Foulger gene: COL9A3 was added gene: COL9A3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: COL9A3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: COL9A3 were set to MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 3 |
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