| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Deafness_IsolatedAndComplex v1.213 | ATF6 | Bryony Thompson Marked gene: ATF6 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v1.213 | ATF6 | Bryony Thompson Gene: atf6 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v1.213 | ATF6 | Bryony Thompson Classified gene: ATF6 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v1.213 | ATF6 | Bryony Thompson Gene: atf6 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v1.212 | ATF6 |
Bryony Thompson gene: ATF6 was added gene: ATF6 was added to Deafness_IsolatedAndComplex. Sources: Literature Mode of inheritance for gene: ATF6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATF6 were set to 39570676 Phenotypes for gene: ATF6 were set to ATF6-related retinopathy MONDO:0100447 Review for gene: ATF6 was set to AMBER Added comment: The gene-disease association with retinopathy & achromatopsia is well-established. Currently, 2 families have been reported with deafness. Homozygous missense (c.970C>T, p.Arg324Cys) segregating with achromatopsia and deafness in 3 siblings in a single family. Proband underwent testing with a 356 gene hearing loss panel with no alternative cause for the deafness identified. Another homozygous missense variant (c.1699T>A, p.Tyr567Asn) was identified in an unrelated proband with achromatopsia and deafness. Other testing of deafness genes was not conducted in this proband. Also, supporting null mouse model. Sources: Literature |
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