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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