Early onset or syndromic epilepsy
Gene: TXNRD1
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
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
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: LiteratureCreated: 11 Dec 2018, 10:20 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
genetic generalized epilepsy
Publications
Source Wessex and West Midlands GLH was added to TXNRD1.
Source NHS GMS was added to TXNRD1.
Sarah Leigh: Sources: Literature
Gene: txnrd1 has been classified as Amber List (Moderate Evidence).
Penetrance for gene TXNRD1 was set from to None
Publications for gene: TXNRD1 were set to 28232204
Gene: txnrd1 has been classified as Amber List (Moderate Evidence).
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