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| BabyScreen+ newborn screening v0.2077 | SLC1A3 | Zornitza Stark Marked gene: SLC1A3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.2077 | SLC1A3 | Zornitza Stark Gene: slc1a3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.2077 | SLC1A3 | Zornitza Stark Classified gene: SLC1A3 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.2077 | SLC1A3 | Zornitza Stark Gene: slc1a3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.2076 | SLC1A3 | Zornitza Stark Tag neurological tag was added to gene: SLC1A3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.2063 | SLC1A3 |
Lilian Downie gene: SLC1A3 was added gene: SLC1A3 was added to Baby Screen+ newborn screening. Sources: Expert list Mode of inheritance for gene: SLC1A3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SLC1A3 were set to PMID: 32754645 Phenotypes for gene: SLC1A3 were set to Episodic ataxia, type 6 MIM#612656 Review for gene: SLC1A3 was set to RED Added comment: ataxia occurs with febrile illnesses Episodic attacks lasted 2 to 3 hours and were often associated with nausea, vomiting, photophobia, phonophobia, vertigo, diplopia, and/or slurred speech Not consistently in children <5 and variable severity Suggested Rx acetazolamide Sources: Expert list |
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