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| Deafness_IsolatedAndComplex v1.36 | RFT1 | Zornitza Stark Marked gene: RFT1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v1.36 | RFT1 | Zornitza Stark Gene: rft1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v1.36 | RFT1 | Zornitza Stark Classified gene: RFT1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v1.36 | RFT1 | Zornitza Stark Gene: rft1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v1.35 | RFT1 |
Zornitza Stark gene: RFT1 was added gene: RFT1 was added to Deafness_IsolatedAndComplex. Sources: Expert Review Mode of inheritance for gene: RFT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RFT1 were set to 18313027; 19701946; 19856127; 23111317; 30071302; 29923091; 27927990; 26892341 Phenotypes for gene: RFT1 were set to Congenital disorder of glycosylation, type In, MIM# 612015; RFT1-CDG, MONDO:0012783 Review for gene: RFT1 was set to GREEN Added comment: Bi-allelic variants are associated with DD/ID, seizures, deafness. More than 10 unrelated families reported. Sources: Expert Review |
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