Mitochondrial disorders
Gene: TRNT1
TRNT1 (tRNA nucleotidyl transferase 1)
EnsemblGeneIds (GRCh38): ENSG00000072756
EnsemblGeneIds (GRCh37): ENSG00000072756
OMIM: 612907, Gene2Phenotype
TRNT1 is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000072756
EnsemblGeneIds (GRCh37): ENSG00000072756
OMIM: 612907, Gene2Phenotype
TRNT1 is in 13 panels
2 reviews
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Gene added by reviewer and rated green, with publications provided reporting in more than 3 unrelated patients with functional evidence.Created: 26 Feb 2016, 11:41 a.m.
Shamima Rahman (UCL Institute of Child Health)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- Phenotypes
-
- congenital sideroblastic anemia with B cell immunodeficiency, fevers, and developmental delay (SIFD)
- retinitis pigmentosa with erythrocytic microcytosis
- OMIM
- 612907
- Clinvar variants
- Variants in TRNT1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Mitochondrial disorders
- Retinal disorders
- Possible mitochondrial disorder - nuclear genes
- DDG2P
- Rare anaemia
- Fetal anomalies
- COVID-19 research
- Undiagnosed metabolic disorders
- Periodic fever syndromes
History Filter Activity
28 Aug 2018, Gel status: 4
Added New Source
Sarah Leigh (Genomics England Curator)Victorian Clinical Genetics Services was added to TRNT1. Panel: Mitochondrial disorders
26 Feb 2016, Gel status: 4
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
26 Feb 2016, Gel status: 4
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
15 Feb 2016, Gel status: 0
Set publications
Ellen McDonagh (Genomics England Curator)Publications for TRNT1 were set to PMID: 25652405; PMID: 26494905
7 Feb 2016, Gel status: 0
Added New Source
Shamima Rahman (UCL Institute of Child Health)TRNT1 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert list
7 Feb 2016, Gel status: 0
Created
Shamima Rahman (UCL Institute of Child Health)TRNT1 was created by [email protected]