| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Central Hypoventilation v0.2 | SLC52A2 | Zornitza Stark Marked gene: SLC52A2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Central Hypoventilation v0.2 | SLC52A2 | Zornitza Stark Gene: slc52a2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Central Hypoventilation v0.2 | SLC52A2 | Zornitza Stark Classified gene: SLC52A2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Central Hypoventilation v0.2 | SLC52A2 | Zornitza Stark Gene: slc52a2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Central Hypoventilation v0.1 | SLC52A2 |
Tegan French gene: SLC52A2 was added gene: SLC52A2 was added to Central Hypoventilation_VCGS. Sources: Expert list Mode of inheritance for gene: SLC52A2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC52A2 were set to 22864630; 23243084 Phenotypes for gene: SLC52A2 were set to Brown-Vialetto-Van Laere syndrome 2; 614707 Review for gene: SLC52A2 was set to GREEN gene: SLC52A2 was marked as current diagnostic Added comment: Brown-Vialetto-Van Laere syndrome 2 OMIM phenotype 614707 Neonatal hypoventilation is a feature of this condition. Patients may benefit from high dose riboflavin supplementation (summary by Johnson et al., 2012; Foley et al., 2014). Sources: Expert list |
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