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| Fetal anomalies v0.575 | COL3A1 | Zornitza Stark Marked gene: COL3A1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.575 | COL3A1 | Zornitza Stark Gene: col3a1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.575 | COL3A1 | Zornitza Stark Phenotypes for gene: COL3A1 were changed from HP:0006496; HP:0002126; HP:0001883 to Polymicrogyria with or without vascular-type ehlers-danlos syndrome, MIM # 618343; Ehlers-Danlos syndrome, vascular type, MIM# 130050 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.574 | COL3A1 | Zornitza Stark Publications for gene: COL3A1 were set to 28742248; 24922459; PMID: 28258187; 27168972; 25205403 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.573 | COL3A1 |
Zornitza Stark changed review comment from: Well established phenotype with polymicrogyria with biallelic variants in COL3A1, at least 6 individuals from 5 unrelated families are described. Clubfoot is a feature of EDS vascular type.; to: Well established phenotype with polymicrogyria with biallelic variants in COL3A1, at least 6 individuals from 5 unrelated families are described. Talipes is a feature of EDS vascular type. |
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| Fetal anomalies v0.573 | COL3A1 | Zornitza Stark reviewed gene: COL3A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28742248, 19455184, 25205403; Phenotypes: Polymicrogyria with or without vascular-type ehlers-danlos syndrome, MIM # 618343, Ehlers-Danlos syndrome, vascular type, MIM# 130050; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | COL3A1 |
Zornitza Stark gene: COL3A1 was added gene: COL3A1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: COL3A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: COL3A1 were set to 28742248; 24922459; PMID: 28258187; 27168972; 25205403 Phenotypes for gene: COL3A1 were set to HP:0006496; HP:0002126; HP:0001883 |
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