| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Intellectual disability syndromic and non-syndromic v0.1545 | TRNT1 | Zornitza Stark Marked gene: TRNT1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.1545 | TRNT1 | Zornitza Stark Gene: trnt1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.523 | TRNT1 | Chirag Patel Phenotypes for gene: TRNT1 were changed from Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay; OMIM #616084 to Retinitis pigmentosa and erythrocytic microcytosis, OMIM #616959; Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, OMIM #616084 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.522 | TRNT1 |
Chirag Patel Source Genetic Health Queensland was removed from TRNT1. Source Expert list was added to TRNT1. Mode of inheritance for gene TRNT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TRNT1 were changed from to Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay; OMIM #616084 Publications for gene TRNT1 were changed from PubMed: 25193871; 23553769; 29170023; 27389523 to PubMed: 25193871; 23553769; 29170023; 27389523 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.521 | TRNT1 | Chirag Patel reviewed gene: TRNT1: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 25193871, 23553769, 29170023, 27389523; Phenotypes: Retinitis pigmentosa and erythrocytic microcytosis, OMIM #616959, Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, OMIM #616084; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.0 | TRNT1 |
Zornitza Stark gene: TRNT1 was added gene: TRNT1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TRNT1 was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||