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  3. ATF6
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Achromatopsia

Gene: ATF6

Amber List (moderate evidence)
ATF6 (activating transcription factor 6)
EnsemblGeneIds (GRCh38): ENSG00000118217
EnsemblGeneIds (GRCh37): ENSG00000118217
OMIM: 605537, Gene2Phenotype
ATF6 is in 5 panels

2 reviews

(Other)

Helllo WOrld
Created: 27 Feb 2025, 2:21 a.m. | Last Modified: 27 Feb 2025, 2:21 a.m.
Panel Version: 1.5

Phenotypes
Updating Phenotype

Created: 27 Feb 2025, 2:21 a.m.
Last Modified: 27 Feb 2025, 2:21 a.m.
Panel version: 1.5

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

At least 11 families reported with the biallelic variants and a null mouse model with retinal degeneration.
Sources: Expert list
Created: 21 May 2020, 4:49 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Achromatopsia 7 MIM#616517

Publications

Created: 21 May 2020, 4:49 a.m.

Panel version: 0.1

Details

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

History Filter Activity

27 Feb 2025, Gel status: 2

Entity classified by Genomics England curator

(Other)

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

27 Feb 2025, Gel status: 1

Entity classified by Genomics England curator

(Other)

Gene: atf6 has been classified as Red List (Low Evidence).

27 Feb 2025, Gel status: 2

Entity classified by Genomics England curator

(Other)

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

21 May 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

21 May 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

21 May 2020, 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 Achromatopsia. Sources: Expert list Mode of inheritance for gene: ATF6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATF6 were set to 26063662; 26029869 Phenotypes for gene: ATF6 were set to Achromatopsia 7 MIM#616517 Review for gene: ATF6 was set to GREEN