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| Red cell disorders v1.23 | SLC19A1 | Zornitza Stark Publications for gene: SLC19A1 were set to 32276275 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Red cell disorders v1.22 | SLC19A1 |
Zornitza Stark edited their review of gene: SLC19A1: Added comment: PMID: 36745868 report two distantly related patients (last common ancestor 5 generations prior) with the same homozygous missense variant, G348R. The variant is absent from gnomAD, although the residue is not conserved in mammals. Both patients experienced severe recurrent infection, neurologic and hematologic disorders, and gastroenteropathy. Functional studies on patient lymphocytes were consistent with reduced transporter activity. PMID: 36517554 report two cousins with immunodeficiency with the same G348R variant as above. Functional studies on patient cells supported loss of transporter function. The patient’s symptoms ameliorated, and hematological and immunological tests normalized in the 2nd month of folinic acid supplementation. Phenotypes not entirely consistent, homozygous variants.; Changed rating: AMBER; Changed publications: 32276275, 36745868, 36517554; Changed phenotypes: Megaloblastic anemia, folate-responsive, MIM# 601775 |
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| Red cell disorders v1.22 | SLC19A1 | Elena Savva Classified gene: SLC19A1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Red cell disorders v1.22 | SLC19A1 | Elena Savva Gene: slc19a1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Red cell disorders v0.5 | SLC19A1 | Zornitza Stark Marked gene: SLC19A1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Red cell disorders v0.5 | SLC19A1 | Zornitza Stark Gene: slc19a1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Red cell disorders v0.5 | SLC19A1 |
Zornitza Stark gene: SLC19A1 was added gene: SLC19A1 was added to Rare anaemia_GEL. Sources: Expert list 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: Expert list |
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