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