Periodic fever syndromes
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
1 review
Alice Gardham (Genomics England)
Comment when marking as ready: Exclusion criteria includes blood dyscrasiasCreated: 2 Feb 2017, 2 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Other
- Phenotypes
-
- Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, 616084
- OMIM
- 612907
- Clinvar variants
- Variants in TRNT1
- Penetrance
- Complete
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Retinal disorders
- Likely inborn error of metabolism
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Mitochondrial disorders
- Possible mitochondrial disorder - nuclear genes
- DDG2P
- Intellectual disability
- Rare anaemia
- Fetal anomalies
- COVID-19 research
- Undiagnosed metabolic disorders
- Periodic fever syndromes
History Filter Activity
22 Feb 2017, Gel status: 1
panel promoted to version 1
Rebecca Foulger (Genomics England curator)22nd February 2017: Promoted to V1. Panel was reviewed by Tracy Briggs and Alice Gardham. Panel was revised according to expert review and additional curation.
2 Feb 2017, Gel status: 1
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
17 Jan 2017, Gel status: 0
Created
Rebecca Foulger (Genomics England curator)TRNT1 was created by rfoulger
17 Jan 2017, Gel status: 0
Added New Source
Rebecca Foulger (Genomics England curator)TRNT1 was added to Periodic fever syndromespanel. Sources: Other