Activity
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6 actions
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| Cytopenia - NOT Fanconi anaemia v4.24 | SLC46A1 | Arina Puzriakova Classified gene: SLC46A1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v4.24 | SLC46A1 | Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to promote this gene to Green. At least 5 unrelated individuals with biallelic variants in this gene and hereditary folate malabsorption which can progress to severe pancytopenia (PMID: 11807405; 17446347; 21333572; 40937236). This is a key feature of this condition and warrants inclusion on the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v4.24 | SLC46A1 | Arina Puzriakova Gene: slc46a1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v4.23 | SLC46A1 |
Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: SLC46A1. Tag Q3_25_NHS_review tag was added to gene: SLC46A1. |
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| Cytopenia - NOT Fanconi anaemia v4.23 | SLC46A1 | Arina Puzriakova Entity copied from Cytopenias and congenital anaemias v1.119 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v4.23 | SLC46A1 |
Arina Puzriakova gene: SLC46A1 was added gene: SLC46A1 was added to Cytopenia - NOT Fanconi anaemia. Sources: Expert Review,Literature Mode of inheritance for gene: SLC46A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC46A1 were set to 21333572; 17446347; 29390264; 11804211; 17641272 Phenotypes for gene: SLC46A1 were set to Folate malabsorption, hereditary, OMIM:229050; anemia; pancytopenia |
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