Congenital adrenal hypoplasia

Gene: TXNRD2

Red List (low evidence)

TXNRD2 (thioredoxin reductase 2)
EnsemblGeneIds (GRCh38): ENSG00000184470
EnsemblGeneIds (GRCh37): ENSG00000184470
OMIM: 606448, Gene2Phenotype
TXNRD2 is in 2 panels

2 reviews

Ellen Thomas (Genomics England Curator)

Comment on list classification: Insufficient evidence to date but may be promoted in future.
Created: 11 Sep 2016, 9:03 a.m.

John Achermann (UCL Institute of Child Health)

Red List (low evidence)

Associated with isolated glucocorticoid insufficiency in several children from a single Kashmiri kindred. Potential association with cardiac defects. No other families reported yet.
Created: 4 Feb 2016, 4:32 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Familial glucocorticoid deficiency
OMIM
606448
Clinvar variants
Variants in TXNRD2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

6 Feb 2017, Gel status: 1

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

06/02/2016: Panel revised according to expert review, further curation and discussion with Clinical Geneticists at Genomics England. Ready to promote to version 1.

2 Feb 2017, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for TXNRD2 were set to PMC4207928; 24601690

2 Feb 2017, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for TXNRD2 were set to PMC4207928; 26548497;24601690

2 Feb 2017, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for TXNRD2 were set to PMC4207928; 26548497

11 Sep 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

11 Sep 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

7 Dec 2015, Gel status: 0

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for gene TXNRD2 were set to Familial glucocorticoid deficiency

7 Dec 2015, Gel status: 0

Created

John Achermann (UCL Institute of Child Health)

TXNRD2 was created by John Achermann

7 Dec 2015, Gel status: 0

Added New Source

John Achermann (UCL Institute of Child Health)

TXNRD2 was added to Congenital adrenal hypoplasiapanel. Sources: Expert list