Choanal atresia

Gene: TXNL4A

Green List (high evidence)

TXNL4A (thioredoxin like 4A)
EnsemblGeneIds (GRCh38): ENSG00000141759
EnsemblGeneIds (GRCh37): ENSG00000141759
OMIM: 611595, Gene2Phenotype
TXNL4A is in 5 panels

3 reviews

Sofia Douzgou (Manchester Centre of Genomic Medicine)

Green List (high evidence)

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and G2P. At least six variants reported
Created: 10 Aug 2016, 2:11 p.m.
Comment on mode of pathogenicity: LOF variants relevant for this phenotype
Created: 10 Aug 2016, 2:11 p.m.

Jill Clayton-Smith (Manchester Centre For Genomic Medicine)

Green List (high evidence)

Compound heterozygosity for rare loss of function mutations in TXNL4A and low frequency promotor deletions
Created: 13 Oct 2015, 11:27 a.m.

Mode of inheritance
Other

Phenotypes
Burn McKeown Syndrome; choanal atresia; lower lid coloboma; cardiac defects; deafness; hypertelorism; abnormality of external ear

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Burn-McKeown syndrome 608572
OMIM
611595
Clinvar variants
Variants in TXNL4A
Penetrance
Complete
Publications
Mode of Pathogenicity
Other - please provide details in the comments
Panels with this gene

History Filter Activity

11 Aug 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to version 1, 11th August 2016

10 Aug 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

10 Aug 2016, Gel status: 4

Set mode of pathogenicity

Sarah Leigh (Genomics England Curator)

Mode of pathogenicity for TXNL4A was changed to Other - please provide details in the comments

10 Aug 2016, Gel status: 4

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for TXNL4A was changed to BIALLELIC, autosomal or pseudoautosomal

10 Aug 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

10 Aug 2016, Gel status: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for TXNL4A were set to Burn-McKeown syndrome 608572

13 Oct 2015, Gel status: 0

Added New Source

Jill Clayton-Smith (Manchester Centre For Genomic Medicine)

TXNL4A was added to Choanal atresiapanel. Sources: Research