| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| BabyScreen+ newborn screening v0.1821 | SLC5A6 |
Zornitza Stark Tag for review was removed from gene: SLC5A6. Tag treatable tag was added to gene: SLC5A6. Tag metabolic tag was added to gene: SLC5A6. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1259 | SLC5A6 | Seb Lunke Marked gene: SLC5A6 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1259 | SLC5A6 | Seb Lunke Gene: slc5a6 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1259 | SLC5A6 | Seb Lunke Phenotypes for gene: SLC5A6 were changed from to Neurodegeneration, infantile-onset, biotin-responsive, MIM# 618973 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1258 | SLC5A6 | Seb Lunke Classified gene: SLC5A6 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1258 | SLC5A6 | Seb Lunke Gene: slc5a6 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1257 | SLC5A6 |
Seb Lunke gene: SLC5A6 was added gene: SLC5A6 was added to gNBS. Sources: Literature for review tags were added to gene: SLC5A6. Mode of inheritance for gene: SLC5A6 was set to BIALLELIC, autosomal or pseudoautosomal Review for gene: SLC5A6 was set to GREEN Added comment: Established gene-disease association. Childhood onset, multisystemic metabolic disorder with highly variable manifestations Treatment: biotin, pantothenic acid, lipoate Non-genetic confirmatory test: no Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||