| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Skeletal Dysplasia_Fetal v0.177 | HHAT | Zornitza Stark Marked gene: HHAT as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal Dysplasia_Fetal v0.177 | HHAT | Zornitza Stark Gene: hhat has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal Dysplasia_Fetal v0.177 | HHAT | Zornitza Stark Classified gene: HHAT as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal Dysplasia_Fetal v0.177 | HHAT | Zornitza Stark Gene: hhat has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal Dysplasia_Fetal v0.173 | HHAT |
Krithika Murali gene: HHAT was added gene: HHAT was added to Skeletal Dysplasia_Fetal. Sources: Literature Mode of inheritance for gene: HHAT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HHAT were set to 33749989 Phenotypes for gene: HHAT were set to Nivelon-Nivelon-Mabille syndrome 600092 Review for gene: HHAT was set to GREEN Added comment: Antenatal diagnosis of the associated skeletal dysplasia features has been reported including micromelia and narrow bell-shaped thorax. Sources: Literature |
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