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| Choanal atresia v0.16 | TXNL4A | Zornitza Stark Phenotypes for gene: TXNL4A were changed from Burn-McKeown syndrome 608572 to Burn-McKeown syndrome, MIM# 608572; Choanal atresia - deafness - cardiac defects - dysmorphism syndrome, MONDO:0012064 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Choanal atresia v0.15 | TXNL4A | Zornitza Stark Marked gene: TXNL4A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Choanal atresia v0.15 | TXNL4A | Zornitza Stark Gene: txnl4a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Choanal atresia v0.15 | TXNL4A |
Zornitza Stark Tag SV/CNV tag was added to gene: TXNL4A. Tag 5'UTR tag was added to gene: TXNL4A. |
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| Choanal atresia v0.15 | TXNL4A | Zornitza Stark reviewed gene: TXNL4A: Rating: GREEN; Mode of pathogenicity: None; Publications: 25434003; Phenotypes: Burn-McKeown syndrome, MIM# 608572; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Choanal atresia v0.1 | TXNL4A |
Zornitza Stark Source Genomics England PanelApp was added to TXNL4A. Added phenotypes Burn-McKeown syndrome 608572 for gene: TXNL4A |
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| Choanal atresia v0.0 | TXNL4A |
Zornitza Stark gene: TXNL4A was added gene: TXNL4A was added to Choanal atresia. Sources: Expert Review Green,Research 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 608572 Mode of pathogenicity for gene: TXNL4A was set to Other - please provide details in the comments |
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