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| Likely inborn error of metabolism - targeted testing not possible v0.4 | TRNT1 |
Ellen McDonagh Added phenotypes congenital sideroblastic anemia with B cell immunodeficiency, fevers, and developmental delay (SIFD); retinitis pigmentosa with erythrocytic microcytosis for gene: TRNT1 Publications for gene TRNT1 were changed from PMID: 26494905; PMID: 25652405 to 25652405; 26494905 |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | TRNT1 |
Ellen McDonagh gene: TRNT1 was added gene: TRNT1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: TRNT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRNT1 were set to PMID: 26494905; PMID: 25652405 Phenotypes for gene: TRNT1 were set to congenital sideroblastic anemia with B cell immunodeficiency, fevers, and developmental delay (SIFD); retinitis pigmentosa with erythrocytic microcytosis |
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