Deafness_IsolatedAndComplex
Gene: ATF6
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: LiteratureCreated: 5 Mar 2025, 5:08 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ATF6-related retinopathy MONDO:0100447
Publications
Gene: atf6 has been classified as Amber List (Moderate Evidence).
Gene: atf6 has been classified as Amber List (Moderate Evidence).
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