Periodic fever syndromes

Gene: TRNT1

Red List (low evidence)

TRNT1 (tRNA nucleotidyl transferase 1)
EnsemblGeneIds (GRCh38): ENSG00000072756
EnsemblGeneIds (GRCh37): ENSG00000072756
OMIM: 612907, Gene2Phenotype
TRNT1 is in 12 panels

1 review

Alice Gardham (Genomics England)

Comment when marking as ready: Exclusion criteria includes blood dyscrasias
Created: 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

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