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Genetic epilepsy syndromes

Gene: TXN2

Red List (low evidence)

TXN2 (thioredoxin 2)
EnsemblGeneIds (GRCh38): ENSG00000100348
EnsemblGeneIds (GRCh37): ENSG00000100348
OMIM: 609063, Gene2Phenotype
TXN2 is in 4 panels

1 review

Rebecca Foulger (Genomics England curator)

Added TXN2 to panel based on epilepsy/seizure phenotype on the 'Inborn errors of metabolism' panel. Currently insufficient evidence of epilepsy phenotype to support inclusion as a Green gene on this panel.
Created: 21 Oct 2019, 2:20 p.m. | Last Modified: 21 Oct 2019, 2:20 p.m.
Panel Version: 1.371

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • ?Combined oxidative phosphorylation deficiency 29, 616811
  • infantile-onset neurodegenerative disorder with severe cerebellar atrophy, epilepsy, dystonia, optic atrophy, and peripheral neuropathy
OMIM
609063
Clinvar variants
Variants in TXN2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Oct 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: TXN2 was added gene: TXN2 was added to Genetic epilepsy syndromes. Sources: Literature,Expert Review Red Mode of inheritance for gene: TXN2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TXN2 were set to 26626369 Phenotypes for gene: TXN2 were set to ?Combined oxidative phosphorylation deficiency 29, 616811; infantile-onset neurodegenerative disorder with severe cerebellar atrophy, epilepsy, dystonia, optic atrophy, and peripheral neuropathy