| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Fetal anomalies v0.2313 | DNM2 | Zornitza Stark Marked gene: DNM2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2313 | DNM2 | Zornitza Stark Gene: dnm2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2313 | DNM2 | Zornitza Stark Phenotypes for gene: DNM2 were changed from Lethal congenital contracture syndrome 5, 615368 to Lethal congenital contracture syndrome 5, MIM#615368 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2312 | DNM2 | Zornitza Stark Mode of inheritance for gene: DNM2 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2311 | DNM2 | Zornitza Stark Classified gene: DNM2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2311 | DNM2 | Zornitza Stark Gene: dnm2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2310 | DNM2 |
Zornitza Stark changed review comment from: Single family reported with lethal congenital contractures, 3 sibs, postulated hypomorphic missense. Monoallelic variants in this gene is associated with neuropathy/myopathy/mitochondrial disease. Sources: Expert Review; to: Single family reported with lethal congenital contractures, 3 sibs, postulated hypomorphic missense. Monoallelic variants in this gene is associated with neuropathy/myopathy/mitochondrial disease and generally have onset in childhood or later. Sources: Expert Review |
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| Fetal anomalies v0.0 | DNM2 |
Zornitza Stark gene: DNM2 was added gene: DNM2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: DNM2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: DNM2 were set to PMID: 30208955 Phenotypes for gene: DNM2 were set to Lethal congenital contracture syndrome 5, 615368 |
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