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| Rare anaemia v1.23 | SLC19A1 | Arina Puzriakova Phenotypes for gene: SLC19A1 were changed from Megaloblastic anemia, folate-responsive, MIM# 601775 to Megaloblastic anemia, folate-responsive, OMIM:601775 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v1.22 | SLC19A1 | Arina Puzriakova Classified gene: SLC19A1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v1.22 | SLC19A1 | Arina Puzriakova Added comment: Comment on list classification: New gene added by Zornitza Stark. Rating Red as only a single case reported at this time. Additional cases required to validate pathogenicity of variants in this gene. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v1.22 | SLC19A1 | Arina Puzriakova Gene: slc19a1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v1.21 | SLC19A1 |
Zornitza Stark gene: SLC19A1 was added gene: SLC19A1 was added to Rare anaemia. Sources: Literature Mode of inheritance for gene: SLC19A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC19A1 were set to 32276275 Phenotypes for gene: SLC19A1 were set to Megaloblastic anemia, folate-responsive, MIM# 601775 Review for gene: SLC19A1 was set to RED Added comment: Single individual reported with in-frame deletion, some functional data. Sources: Literature |
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