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Mitochondrial disease
Gene: TXN2

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

One family with functional studies.
Created: 18 Mar 2020, 3:16 a.m. | Last Modified: 18 Mar 2020, 3:16 a.m.

Panel Version: 0.178

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Combined oxidative phosphorylation deficiency 29, MIM# 616811

Publications

Created: 18 Mar 2020, 3:16 a.m.
Last Modified: 18 Mar 2020, 3:16 a.m.
Panel version: 0.178

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Amber
Victorian Clinical Genetics Services
Australian Genomics Health Alliance Mitochondrial Flagship

Phenotypes

Combined oxidative phosphorylation deficiency 29, MIM# 616811

OMIM

Clinvar variants

Variants in TXN2

Penetrance

None

Publications

Panels with this gene

History Filter Activity

18 Mar 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: txn2 has been classified as Amber List (Moderate Evidence).

18 Mar 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TXN2 were changed from to Combined oxidative phosphorylation deficiency 29, MIM# 616811

18 Mar 2020, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TXN2 were set to

18 Mar 2020, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: TXN2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

18 Mar 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: txn2 has been classified as Amber List (Moderate Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TXN2 was added gene: TXN2 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services Mode of inheritance for gene: TXN2 was set to Unknown