Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Skeletal Dysplasia_Fetal v0.131 | PCNT | Zornitza Stark Marked gene: PCNT as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal Dysplasia_Fetal v0.131 | PCNT | Zornitza Stark Gene: pcnt has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal Dysplasia_Fetal v0.131 | PCNT | Zornitza Stark Classified gene: PCNT as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal Dysplasia_Fetal v0.131 | PCNT | Zornitza Stark Gene: pcnt has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal Dysplasia_Fetal v0.121 | PCNT |
Krithika Murali gene: PCNT was added gene: PCNT was added to Skeletal Dysplasia_Fetal. Sources: Literature,Expert list Mode of inheritance for gene: PCNT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PCNT were set to 34978779 Phenotypes for gene: PCNT were set to Microcephalic osteodysplastic primordial dwarfism, type II - MIM#210720 Review for gene: PCNT was set to GREEN Added comment: Primordial dwarfism with significant prenatal growth restriction and mesomelia reported. Sources: Literature, Expert list |