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Inborn errors of metabolism

Gene: TXN2

Red List (low evidence)

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

4 reviews

Catherine Snow (Genomics England)

No further variants have been reported in the literature to date (22/10/2019).
Created: 22 Oct 2019, 9:50 a.m. | Last Modified: 22 Oct 2019, 9:50 a.m.
Panel Version: 1.374

Ivone Leong (Genomics England Curator)

There is currently no further evidence to support promoting this gene to green rating; therefore, this gene will remain red until more evidence is available.
Created: 3 May 2019, 10:41 a.m.

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Added by reviewer, who indicated this has only been reported in a single case - this therefore should be added to the red list at this time. In OMIM, it is indicated with a question mark as it has been reported in one case.
Created: 26 Feb 2016, 11:45 a.m.

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

single mutation report in literature (only one case)
Created: 7 Feb 2016, 9:59 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Details

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

History Filter Activity

8 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with phenotype in O

16 Dec 2018, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

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