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Skeletal Dysplasia_Fetal v0.130 | POC1A | Zornitza Stark Marked gene: POC1A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal Dysplasia_Fetal v0.130 | POC1A | Zornitza Stark Gene: poc1a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal Dysplasia_Fetal v0.130 | POC1A | Zornitza Stark Classified gene: POC1A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal Dysplasia_Fetal v0.130 | POC1A | Zornitza Stark Gene: poc1a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal Dysplasia_Fetal v0.121 | POC1A |
Krithika Murali gene: POC1A was added gene: POC1A was added to Skeletal Dysplasia_Fetal. Sources: Literature,Expert list Mode of inheritance for gene: POC1A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POC1A were set to 31630891; 31630891; 30569574 Phenotypes for gene: POC1A were set to Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, MIM#614813 Review for gene: POC1A was set to GREEN Added comment: Primordial dwarfism characterised by disproportionate severe short stature prenatal in onset. Sources: Literature, Expert list |