| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Early onset or syndromic epilepsy v1.191 | TXNRD1 | Rebecca Foulger Source Wessex and West Midlands GLH was added to TXNRD1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v1.190 | TXNRD1 | Rebecca Foulger Source NHS GMS was added to TXNRD1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v1.189 | TXNRD1 | Rebecca Foulger reviewed gene: TXNRD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v1.188 | TXNRD1 | Tracy Lester reviewed gene: TXNRD1: Rating: AMBER; Mode of pathogenicity: ; Publications: 28232204; Phenotypes: generalized epilepsy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1514 | TXNRD1 | Sarah Leigh Added comment: Comment on phenotypes: Seizures, myoclonic seizures and generalized tonic-clonic seizures which disappeared progressively | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1514 | TXNRD1 | Sarah Leigh Phenotypes for gene: TXNRD1 were changed from genetic generalized epilepsy to genetic generalized epilepsy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1513 | TXNRD1 | Sarah Leigh Marked gene: TXNRD1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1513 | TXNRD1 | Sarah Leigh Added comment: 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). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1513 | TXNRD1 | Sarah Leigh Gene: txnrd1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1513 | TXNRD1 | Sarah Leigh Penetrance for gene TXNRD1 was set from to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1512 | TXNRD1 | Sarah Leigh Added comment: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1512 | TXNRD1 | Sarah Leigh Publications for gene: TXNRD1 were set to 28232204 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1511 | TXNRD1 | Sarah Leigh Classified gene: TXNRD1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1511 | TXNRD1 | Sarah Leigh Gene: txnrd1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1510 | TXNRD1 |
Sarah Leigh 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 Added comment: Sources: Literature |
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