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Deafness_IsolatedAndComplex

Gene: ATF6

Amber List (moderate evidence)

ATF6 (activating transcription factor 6)
EnsemblGeneIds (GRCh38): ENSG00000118217
EnsemblGeneIds (GRCh37): ENSG00000118217
OMIM: 605537, Gene2Phenotype
ATF6 is in 6 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

I don't know

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
Created: 5 Mar 2025, 5:08 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
ATF6-related retinopathy MONDO:0100447

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • ATF6-related retinopathy MONDO:0100447
OMIM
605537
Clinvar variants
Variants in ATF6
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Mar 2025, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: atf6 has been classified as Amber List (Moderate Evidence).

5 Mar 2025, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: atf6 has been classified as Amber List (Moderate Evidence).

5 Mar 2025, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

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