Retinal disordersGene: TRNT1
The disorders associated with this gene likely represent a spectrum rather than distinct conditions, therefore gene-disease association evidence assessed across publications. RP/retinal dysfunction reported in more than 3 families, supportive functional data.
Created: 15 Oct 2020, 7:55 a.m. | Last Modified: 15 Oct 2020, 7:56 a.m.
Panel Version: 2.20
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Retinitis pigmentosa and erythrocytic microcytosis, MIM# 616959; Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, MIM# 616084
The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 8 Mar 2022, 10:06 a.m. | Last Modified: 8 Mar 2022, 10:06 a.m.
Panel Version: 2.243
This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease assocation. This gene should be rated Green at the next review.
Created: 27 Jan 2021, 3:57 p.m. | Last Modified: 27 Jan 2021, 3:57 p.m.
Panel Version: 2.158
Submitted on behalf of the GMS Eye specialist group. These genes are also from RetNet. There is currently not enough evidence to rate these genes Green, therefore they have been given an Amber rating.
Created: 27 Dec 2019, 9:10 a.m. | Last Modified: 27 Dec 2019, 9:10 a.m.
Panel Version: 2.5
Tag for-review was removed from gene: TRNT1.
Source Expert Review Green was added to TRNT1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag for-review tag was added to gene: TRNT1.
Mode of inheritance for gene: TRNT1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRNT1 were changed from to Retinitis pigmentosa and erythrocytic microcytosis, OMIM:616959; Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, OMIM:616084
Publications for gene: TRNT1 were set to
gene: TRNT1 was added gene: TRNT1 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS Mode of inheritance for gene: TRNT1 was set to