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| Severe Paediatric Disorders v0.12 | TRNT1 | Louise Daugherty reviewed gene: TRNT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.11 | TRNT1 | Louise Daugherty Publications for gene TRNT1 were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.10 | TRNT1 | Louise Daugherty Added phenotypes Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, 616084; Retinitis pigmentosa and erythrocytic microcytosis, 616959 for gene: TRNT1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.9 | TRNT1 | Louise Daugherty Added phenotypes Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, 616084; Retinitis pigmentosa and erythrocytic microcytosis, 616959 for gene: TRNT1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.9 | TRNT1 | Louise Daugherty Added phenotypes Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, 616084; Retinitis pigmentosa and erythrocytic microcytosis, 616959 for gene: TRNT1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.8 | TRNT1 | Louise Daugherty Added phenotypes Retinitis pigmentosa and erythrocytic microcytosis, 616959; Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, 616084 for gene: TRNT1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.8 | TRNT1 |
Louise Daugherty Mode of inheritance for gene TRNT1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, 616084; Retinitis pigmentosa and erythrocytic microcytosis, 616959 for gene: TRNT1 |
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| Severe Paediatric Disorders v0.7 | TRNT1 | Louise Daugherty Source Next Generation Children Project was added to TRNT1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.5 | TRNT1 |
Louise Daugherty Source Expert Review Green was added to TRNT1. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Severe Paediatric Disorders v0.4 | TRNT1 |
Louise Daugherty gene: TRNT1 was added gene: TRNT1 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: TRNT1 was set to |
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