| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Arthrogryposis v0.102 | DHCR24 | Zornitza Stark Marked gene: DHCR24 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v0.102 | DHCR24 | Zornitza Stark Gene: dhcr24 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v0.102 | DHCR24 | Zornitza Stark Classified gene: DHCR24 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v0.102 | DHCR24 | Zornitza Stark Gene: dhcr24 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v0.101 | DHCR24 |
Zornitza Stark gene: DHCR24 was added gene: DHCR24 was added to Arthrogryposis. Sources: Expert list Mode of inheritance for gene: DHCR24 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DHCR24 were set to 21671375; 12457401; 29175559; 21559050 Phenotypes for gene: DHCR24 were set to Desmosterolosis, MIM# 602398 Review for gene: DHCR24 was set to GREEN Added comment: At least 4 families reported where contractures are a feature of the condition. Sources: Expert list |
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