Deafness_IsolatedAndComplex
Gene: TXNL4AEnsemblGeneIds (GRCh38): ENSG00000141759
EnsemblGeneIds (GRCh37): ENSG00000141759
OMIM: 611595, Gene2Phenotype
TXNL4A is in 11 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Burn-McKeown syndrome is a rare condition in which individuals with normal intellectual development exhibit the characteristic combination of choanal atresia, sensorineural deafness, cardiac defects, and typical craniofacial dysmorphism consisting of narrow palpebral fissures, coloboma of the lower eyelids, prominent nose with high nasal bridge, short philtrum, cleft lip and/or palate, and large and protruding ears. Note 34-bp deletion in the promoter of the TXNL4A gene (chr18:77,748,581-77,748,614del, GRCh37) was identified in heterozygous or homozygous state in all the families reported originally. Haplotype analysis revealed that the promoter deletions were located on different haplotypes and thus most likely occurred due to recurrent events rather than a founder effect.
Sources: Expert ReviewCreated: 26 Mar 2021, 9:10 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Burn-McKeown syndrome, MIM# 608572; Choanal atresia - deafness - cardiac defects - dysmorphism syndrome, MONDO:0012064
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert Review
- Phenotypes
-
- Burn-McKeown syndrome, MIM# 608572
- Choanal atresia - deafness - cardiac defects - dysmorphism syndrome, MONDO:0012064
- Tags
- OMIM
- 611595
- Clinvar variants
- Variants in TXNL4A
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: txnl4a has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: txnl4a has been classified as Green List (High Evidence).
Created, Added New Source, Added Tag, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: TXNL4A was added gene: TXNL4A was added to Deafness_IsolatedAndComplex. Sources: Expert Review SV/CNV, 5'UTR tags were added to gene: TXNL4A. Mode of inheritance for gene: TXNL4A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TXNL4A were set to 25434003 Phenotypes for gene: TXNL4A were set to Burn-McKeown syndrome, MIM# 608572; Choanal atresia - deafness - cardiac defects - dysmorphism syndrome, MONDO:0012064 Review for gene: TXNL4A was set to GREEN