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Congenital nystagmus

Gene: ATF6

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Affected individuals present from birth or early infancy with photophobia, nystagmus, severely reduced visual acuity, and color blindness
Created: 24 Oct 2021, 5:44 a.m. | Last Modified: 24 Oct 2021, 5:44 a.m.
Panel Version: 0.11

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Achromatopsia 7, MIM#616517

Created: 24 Oct 2021, 5:44 a.m.
Last Modified: 24 Oct 2021, 5:44 a.m.
Panel version: 0.11

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: Imported from Achromatopsia panel version 0.1

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Expert list
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).

6 Oct 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ATF6 was added gene: ATF6 was added to Congenital nystagmus. Sources: Expert Review Green,Expert list Mode of inheritance for gene: ATF6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATF6 were set to 26029869; 26063662 Phenotypes for gene: ATF6 were set to Achromatopsia 7 MIM#616517