Choanal atresia
Gene: TXNL4A

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)

Created: 5 Nov 2017, 2:37 a.m.

Panel version: 0

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.

Created: 10 Aug 2016, 2:11 p.m.

Panel version: 0.25

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

25434003

Created: 13 Oct 2015, 11:27 a.m.

Panel version: 0

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

25434003

Mode of Pathogenicity

Other - please provide details in the comments

Panels with this gene