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| Fetal anomalies v0.4205 | GDF3 |
Zornitza Stark changed review comment from: The variants originally reported are present at a high frequency in gnomad which is not consistent with a rare Mendelian disorder.; to: The variants originally reported are present at a high frequency in gnomad which is not consistent with a rare Mendelian disorder. Some individuals had skeletal features. More recent publication PMID 29260090: variant inherited from phenotypically normal parent, leading authors to speculate about reduced penetrance. |
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| Fetal anomalies v0.4205 | GDF3 | Zornitza Stark edited their review of gene: GDF3: Changed publications: 29260090; Changed phenotypes: Klippel-Feil syndrome 3, autosomal dominant 613702 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4205 | GDF3 | Zornitza Stark Classified gene: GDF3 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4205 | GDF3 | Zornitza Stark Gene: gdf3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4204 | GDF3 | Zornitza Stark reviewed gene: GDF3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4204 | GDF3 | Zornitza Stark Marked gene: GDF3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4204 | GDF3 | Zornitza Stark Gene: gdf3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4175 | GDF3 | Chirag Patel Classified gene: GDF3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4175 | GDF3 | Chirag Patel Gene: gdf3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4174 | GDF3 |
Chirag Patel gene: GDF3 was added gene: GDF3 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: GDF3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GDF3 were set to PubMed: 19864492 Phenotypes for gene: GDF3 were set to Microphthalmia with coloboma 6, OMIM #613703; Microphthalmia, isolated 7, OMIM # 613704 Review for gene: GDF3 was set to GREEN Added comment: Ye et al. (2010) identified heterozygous missense mutations in the GDF3 gene in 3 probands with bilateral colobomatous microphthalmia. Sources: Literature |
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