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| Intellectual disability v3.1511 | TRNT1 | Arina Puzriakova Tag for-review was removed from gene: TRNT1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.1510 | TRNT1 | Sarah Leigh commented on gene: TRNT1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.1509 | TRNT1 |
Arina Puzriakova Source Expert Review Green was added to TRNT1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Intellectual disability v3.265 | TRNT1 | Arina Puzriakova Tag for-review tag was added to gene: TRNT1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.265 | TRNT1 | Arina Puzriakova Publications for gene: TRNT1 were set to 25193871; 23553769; 29170023; 27389523 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.264 | TRNT1 | Arina Puzriakova Classified gene: TRNT1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.264 | TRNT1 | Arina Puzriakova Added comment: Comment on list classification: There is enough evidence to rate this gene GREEN at the next major review - sufficient number of cases with (mild-profound) developmental delay, associated with biallelic variants in TRNT1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.264 | TRNT1 | Arina Puzriakova Gene: trnt1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.3 | TRNT1 |
Zornitza Stark gene: TRNT1 was added gene: TRNT1 was added to Intellectual disability. Sources: Expert list Mode of inheritance for gene: TRNT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRNT1 were set to 25193871; 23553769; 29170023; 27389523 Phenotypes for gene: TRNT1 were set to Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, OMIM #616084 Review for gene: TRNT1 was set to GREEN gene: TRNT1 was marked as current diagnostic Added comment: > 10 families reported with congenital sideroblastic anemia, B-cell deficiency, periodic fevers, and variable degrees of delayed psychomotor development. Sources: Expert list |
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