| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Skeletal Dysplasia_Fetal v0.150 | DHCR24 | Zornitza Stark Marked gene: DHCR24 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal Dysplasia_Fetal v0.150 | DHCR24 | Zornitza Stark Gene: dhcr24 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal Dysplasia_Fetal v0.150 | DHCR24 | Zornitza Stark Classified gene: DHCR24 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal Dysplasia_Fetal v0.150 | DHCR24 | Zornitza Stark Gene: dhcr24 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal Dysplasia_Fetal v0.149 | DHCR24 | Zornitza Stark changed review comment from: Uncertain whether it would present antenatally predominantly with the skeletal findings.; to: Uncertain whether it would present antenatally predominantly with the skeletal findings. Appropriately rated Green on Fetal Anomalies. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal Dysplasia_Fetal v0.149 | DHCR24 | Zornitza Stark reviewed gene: DHCR24: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Desmosterolosis - MIM#602398; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal Dysplasia_Fetal v0.146 | DHCR24 |
Krithika Murali gene: DHCR24 was added gene: DHCR24 was added to Skeletal Dysplasia_Fetal. Sources: Literature,Expert list Mode of inheritance for gene: DHCR24 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DHCR24 were set to PMID: 21671375 Phenotypes for gene: DHCR24 were set to Desmosterolosis - MIM#602398 Review for gene: DHCR24 was set to GREEN Added comment: Although contractures are the more prominent antenatal feature, rhizomesomelia diagnosed at birth has been described. Sources: Literature, Expert list |
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