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| Congenital Heart Defect v0.363 | TXNL4A | Zornitza Stark Marked gene: TXNL4A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.363 | TXNL4A | Zornitza Stark Gene: txnl4a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.363 | TXNL4A | Zornitza Stark Classified gene: TXNL4A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.363 | TXNL4A | Zornitza Stark Gene: txnl4a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.362 | TXNL4A |
Zornitza Stark Tag SV/CNV tag was added to gene: TXNL4A. Tag UTR tag was added to gene: TXNL4A. |
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| Congenital Heart Defect v0.362 | TXNL4A | Zornitza Stark reviewed gene: TXNL4A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Burn-McKeown syndrome - MIM#608572; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.315 | TXNL4A |
LUCAS GARCIA ALVES FERREIRA gene: TXNL4A was added gene: TXNL4A was added to Congenital Heart Defect. Sources: Literature Mode of inheritance for gene: TXNL4A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TXNL4A were set to 25434003; 28905882 Phenotypes for gene: TXNL4A were set to Burn-McKeown syndrome - MIM#608572 Penetrance for gene: TXNL4A were set to unknown Review for gene: TXNL4A was set to AMBER Added comment: Homozygous or compound heterozygous mutation in the TXNL4A gene are associated to Burn-McKeown syndrome (BMKS). BMKS is a rare disorder 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 (Wieczorek et al 2014 - PMID 25434003). Wieczorek et al (2014 - PMID: 25434003) report 9 families presenting individuals with BMKS and harboring biallelic variants in the TXNL4A gene. Four unrelated individuals presented cardiac defects. Goos et al (2017 - PMID: 28905882) report an individual with BMKS including asymptomatic atrial and ventricular septal defects, and harboring biallelic variants in the TXNL4A gene. Sources: Literature |
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