| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Central Hypoventilation v0.6 | SLC52A3 | Zornitza Stark Marked gene: SLC52A3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Central Hypoventilation v0.6 | SLC52A3 | Zornitza Stark Gene: slc52a3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Central Hypoventilation v0.6 | SLC52A3 | Zornitza Stark Classified gene: SLC52A3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Central Hypoventilation v0.6 | SLC52A3 | Zornitza Stark Gene: slc52a3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Central Hypoventilation v0.5 | SLC52A3 |
Zornitza Stark gene: SLC52A3 was added gene: SLC52A3 was added to Central Hypoventilation. Sources: Expert list Mode of inheritance for gene: SLC52A3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC52A3 were set to Brown-Vialetto-Van Laere syndrome 1, MIM# 211530 Review for gene: SLC52A3 was set to GREEN Added comment: Although this condition does not cause central hypoventilation, it can present with hypoventilation due to phrenic nerve palsy, and as it is treatable, it has been included in this panel. Sources: Expert list |
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