Mitochondrial disorders
Gene: TXN2EnsemblGeneIds (GRCh38): ENSG00000100348
EnsemblGeneIds (GRCh37): ENSG00000100348
OMIM: 609063, Gene2Phenotype
TXN2 is in 5 panels
3 reviews
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)
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
-
- Victorian Clinical Genetics Services
- 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
- Complete
- Publications
- Panels with this gene
History Filter Activity
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: TXN2 were set to PMID: 26626369
Added New Source
Sarah Leigh (Genomics England Curator)Victorian Clinical Genetics Services was added to TXN2. Panel: Mitochondrial disorders
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for TXN2 were set to infantile-onset neurodegenerative disorder with severe cerebellar atrophy, epilepsy, dystonia, optic atrophy, and peripheral neuropathy; ?Combined oxidative phosphorylation deficiency 29
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Added New Source
Shamima Rahman (UCL Institute of Child Health)TXN2 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert list
Created
Shamima Rahman (UCL Institute of Child Health)TXN2 was created by [email protected]