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Mackenzie's Mission_Reproductive Carrier Screening

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

0 reviews

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Achromatopsia 7, 616517 (3), Autosomal recessive
OMIM
605537
Clinvar variants
Variants in ATF6
Penetrance
None
Panels with this gene

History Filter Activity

19 Apr 2020, 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 Mackenzie's Mission_Reproductive Carrier Screening. 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