ClinGen Gene Validity Curations

Gene: ATF6

Green List (high evidence)

ATF6 (activating transcription factor 6)
EnsemblGeneIds (GRCh38): ENSG00000118217
EnsemblGeneIds (GRCh37): ENSG00000118217
OMIM: 605537, Gene2Phenotype
ATF6 is in 2 panels

1 review

Ellen McDonagh (Genomics England Curator)

Green List (high evidence)

This gene and information sourced from the ClinGen Gene Validity Curations. For the full report and publications, see the ClinGen Gene Validity Curation for each gene here: https://search.clinicalgenome.org/kb/gene-validity.
Created: 23 Jun 2017, 11:51 a.m.
Source: ClinGen Gene Validity Classification Summary. Determined as STRONG by calculated classification (dated: 06/01/2016) and STRONG by Expert curation (dated 11/16/2016). Available here: https://search.clinicalgenome.org/kb/gene-validity/4842.
Created: 19 Apr 2017, 9:39 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ClinGen
  • Expert Review Green
  • Other
Phenotypes
  • Achromatopsia
OMIM
605537
Clinvar variants
Variants in ATF6
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

20 Jun 2017, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

ATF6 was added to ClinGen Gene Validity Curationspanel. Source: ClinGen

19 Apr 2017, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

19 Apr 2017, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

ATF6 was added to ClinGen Gene Validity Curationspanel. Sources: Other

19 Apr 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

ATF6 was created by ellenmcdonagh