| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Skeletal Dysplasia_Fetal v0.100 | ZSWIM6 | Zornitza Stark Marked gene: ZSWIM6 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal Dysplasia_Fetal v0.100 | ZSWIM6 | Zornitza Stark Gene: zswim6 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal Dysplasia_Fetal v0.100 | ZSWIM6 | Zornitza Stark Classified gene: ZSWIM6 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal Dysplasia_Fetal v0.100 | ZSWIM6 | Zornitza Stark Gene: zswim6 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal Dysplasia_Fetal v0.91 | ZSWIM6 |
Krithika Murali changed review comment from: AFND has multiple clinical features amenable to prenatal diagnosis including hypertelorism, nasal malformation, cleft palate, preaxial polydactyly, lower limb malformation, talipes equinovarus and CNS anomalies. Prenatal diagnosis has been reported in the published literature (PMID: 33776626). Sources: Literature; to: AFND has multiple skeletal features amenable to prenatal diagnosis including preaxial polydactyly, mesomelic shortening and lower limb malformations. Prenatal diagnosis on the basis of skeletal features and other anomalies has been reported in the published literature (PMID: 33776626). Sources: Literature |
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| Skeletal Dysplasia_Fetal v0.91 | ZSWIM6 |
Krithika Murali gene: ZSWIM6 was added gene: ZSWIM6 was added to Skeletal Dysplasia_Fetal. Sources: Literature Mode of inheritance for gene: ZSWIM6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ZSWIM6 were set to PMID: 33776626 Phenotypes for gene: ZSWIM6 were set to Acromelic frontonasal dysostosis - MIM#603671 Review for gene: ZSWIM6 was set to GREEN Added comment: AFND has multiple clinical features amenable to prenatal diagnosis including hypertelorism, nasal malformation, cleft palate, preaxial polydactyly, lower limb malformation, talipes equinovarus and CNS anomalies. Prenatal diagnosis has been reported in the published literature (PMID: 33776626). Sources: Literature |
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