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| Aminoacidopathy v1.123 | SLC1A4 | Zornitza Stark Marked gene: SLC1A4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.123 | SLC1A4 | Zornitza Stark Gene: slc1a4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.123 | SLC1A4 | Zornitza Stark Classified gene: SLC1A4 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.123 | SLC1A4 | Zornitza Stark Gene: slc1a4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.95 | SLC1A4 |
Sangavi Sivagnanasundram gene: SLC1A4 was added gene: SLC1A4 was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: SLC1A4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC1A4 were set to 25930971, 27711071, 29989513, 29652076, 26041762, 27193218, 30125339 Phenotypes for gene: SLC1A4 were set to spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome MONDO:0014725 Review for gene: SLC1A4 was set to GREEN Added comment: Reported in at least 9 individuals with reported biochemical abnormalities involving the L-serine transporter. Classified Definitive by Aminoacidopathy GCEP on 14/05/2021 - https://search.clinicalgenome.org/CCID:006155 Sources: ClinGen |
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