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| Deafness_IsolatedAndComplex v1.62 | TXNL4A | Zornitza Stark Marked gene: TXNL4A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v1.62 | TXNL4A | Zornitza Stark Gene: txnl4a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v1.62 | TXNL4A | Zornitza Stark Classified gene: TXNL4A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v1.62 | TXNL4A | Zornitza Stark Gene: txnl4a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v1.61 | TXNL4A |
Zornitza Stark 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 Added comment: 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 Review |
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