Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Additional findings_Paediatric v0.2 | ALDH5A1 | Zornitza Stark Added phenotypes Succinic semialdehyde dehydrogenase deficiency for gene: ALDH5A1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Paediatric v0.0 | ALDH5A1 |
Zornitza Stark gene: ALDH5A1 was added gene: ALDH5A1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: ALDH5A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALDH5A1 were set to Succinic semialdehyde dehydrogenase deficiency |