Genes in panel
Regions in panel
Prev Next

Mendeliome

Gene: ATF6

Green List (high evidence)

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

2 reviews

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.
Created: 5 Mar 2025, 5:09 a.m. | Last Modified: 5 Mar 2025, 5:09 a.m.
Panel Version: 1.2348

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
hearing loss disorder MONDO:0005365

Publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

At least 11 families reported with the biallelic variants and a null mouse model with retinal degeneration. Affected individuals present from birth or early infancy with photophobia, nystagmus, severely reduced visual acuity, and color blindness.
Created: 24 Oct 2021, 5:45 a.m. | Last Modified: 24 Oct 2021, 5:45 a.m.
Panel Version: 0.9446

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Achromatopsia 7, MIM#616517

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Achromatopsia 7, MIM#616517
OMIM
605537
Clinvar variants
Variants in ATF6
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Oct 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: atf6 has been classified as Green List (High Evidence).

24 Oct 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ATF6 were changed from to Achromatopsia 7, MIM#616517

24 Oct 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ATF6 were set to

24 Oct 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: ATF6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ATF6 was added gene: ATF6 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ATF6 was set to Unknown