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Genetic epilepsy syndromes

Gene: TXNRD1

Amber List (moderate evidence)

TXNRD1 (thioredoxin reductase 1)
EnsemblGeneIds (GRCh38): ENSG00000198431
EnsemblGeneIds (GRCh37): ENSG00000198431
OMIM: 601112, Gene2Phenotype
TXNRD1 is in 1 panel

3 reviews

Rebecca Foulger (Genomics England curator)

I don't know

Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: Alison Callaway and John Taylor. Suggested gene rating: Amber.
Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189

Tracy Lester (Genetics laboratory, Oxford UK)

I don't know

A generalised epilepsy case was reported in PMID 28232204.
Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
generalized epilepsy

Publications

Sarah Leigh (Genomics England Curator)

I don't know

Comment when marking as ready: Associated with phenotype in OMIM and not in Gen2Phen. Based on single report of homozygous variants in five siblings three of whom have genetic generalized epilepsy (PMID 28232204), thus suggestive of incomplete penetrance. In vitro functional studies demonstrate the pathogenicity of the variant c.569 C>T, p.Pro190Leu, NM_182743.2, NP_877393.1. Furthermore, mouse models provide some evidence for the potential role of TXNRD1 in epilepsy, with nervous system-specific inactivation of Txnrd1 in mice resulting in ataxia, tremor and cerebellar hypoplasia. Although, cerebellar development was not impaired in neuron-specific Txnrd1 knockout mice. (PMID 18350150).
Created: 11 Dec 2018, 10:43 a.m.
Comment on publications: PMID 18350150 Nervous system-specific inactivation of Txnrd1 in mice led to ataxia, tremor and cerebellar hypoplasia. However, cerebellar development was not impaired in neuron-specific Txnrd1 knockout mice.
Created: 11 Dec 2018, 10:39 a.m.
Sources: Literature
Created: 11 Dec 2018, 10:20 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
genetic generalized epilepsy

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Amber
  • Literature
Phenotypes
  • genetic generalized epilepsy
OMIM
601112
Clinvar variants
Variants in TXNRD1
Penetrance
Incomplete
Publications
Panels with this gene

History Filter Activity

6 Aug 2019, Gel status: 2

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to TXNRD1.

6 Aug 2019, Gel status: 2

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to TXNRD1.

11 Dec 2018, Gel status: 2

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Sarah Leigh: Sources: Literature

11 Dec 2018, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: txnrd1 has been classified as Amber List (Moderate Evidence).

11 Dec 2018, Gel status: 2

Set penetrance

Sarah Leigh (Genomics England Curator)

Penetrance for gene TXNRD1 was set from to None

11 Dec 2018, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: TXNRD1 were set to 28232204

11 Dec 2018, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: txnrd1 has been classified as Amber List (Moderate Evidence).

11 Dec 2018, Gel status: 1

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

Sarah Leigh (Genomics England Curator)

gene: TXNRD1 was added gene: TXNRD1 was added to Genetic epilepsy syndromes. Sources: Literature Mode of inheritance for gene: TXNRD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TXNRD1 were set to 28232204 Phenotypes for gene: TXNRD1 were set to genetic generalized epilepsy Review for gene: TXNRD1 was set to AMBER