Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Additional findings_Paediatric v0.2 | CLN3 | Zornitza Stark Added phenotypes Ceroid lipofuscinosis, neuronal, 3 for gene: CLN3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Paediatric v0.0 | CLN3 |
Zornitza Stark gene: CLN3 was added gene: CLN3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: CLN3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CLN3 were set to Ceroid lipofuscinosis, neuronal, 3 |