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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

1 review

Lauren Thomas (VIctorian Clinical Genetics Services)

Green List (high evidence)

Achromatopsia (ACHM) is an autosomal recessive disorder resulting from lack of cone photoreceptor function. Affected individuals present from birth or early infancy with photophobia, nystagmus, severely reduced visual acuity, and color blindness. At least 11 families reported with the biallelic variants and a null mouse model with retinal degeneration.

HGNC approved symbol/name: ATF6
Is the phenotype(s) severe and onset <18yo? Yes
Known technical challenges? No
Gene reported in 3 independent families: Yes
Created: 21 Nov 2024, 12:41 a.m. | Last Modified: 21 Nov 2024, 12:41 a.m.
Panel Version: 1.557

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Achromatopsia 7, MIM# 616517

Publications

Created: 21 Nov 2024, 12:41 a.m.
Last Modified: 21 Nov 2024, 12:41 a.m.
Panel version: 1.557

Details

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

History Filter Activity

28 Nov 2024, Gel status: 3

Entity classified by Genomics England curator

Lilian Downie (Victorian Clinical Genetics Services)

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

28 Nov 2024, Gel status: 3

Set Phenotypes

Lilian Downie (Victorian Clinical Genetics Services)

Phenotypes for gene: ATF6 were changed from Achromatopsia 7, 616517 (3), Autosomal recessive to Achromatopsia 7, MIM# 616517

28 Nov 2024, Gel status: 3

Set publications

Lilian Downie (Victorian Clinical Genetics Services)

Publications for gene: ATF6 were set to

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ATF6 was added gene: ATF6 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ATF6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ATF6 were set to Achromatopsia 7, 616517 (3), Autosomal recessive