This Panel is marked as Internal
ClinGen Gene Validity Curations
Gene: ATF6
ATF6 (activating transcription factor 6)
EnsemblGeneIds (GRCh38): ENSG00000118217
EnsemblGeneIds (GRCh37): ENSG00000118217
OMIM: 605537, Gene2Phenotype
ATF6 is in 1 panel
EnsemblGeneIds (GRCh38): ENSG00000118217
EnsemblGeneIds (GRCh37): ENSG00000118217
OMIM: 605537, Gene2Phenotype
ATF6 is in 1 panel
1 review
Ellen McDonagh (Genomics England Curator)
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
Created
Ellen McDonagh (Genomics England Curator)ATF6 was created by ellenmcdonagh
19 Apr 2017, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)ATF6 was added to ClinGen Gene Validity Curationspanel. Sources: Other