Retinal disorders
Gene: ATF6
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Achromatopsia 7
Variants in this GENE are reported as part of current diagnostic practice
Comment on list classification: Promoted to green. This is a tier 1 gene on the BRIDGE consortium SPEED_RETIN panel. It is also classified as STRONG by the ClinGen calculated classification (dated: 06/01/2016) and STRONG by ClinGen Expert curation (dated 11/16/2016). The ClinGen Gene Validity Classification Summary is available here: https://search.clinicalgenome.org/kb/gene-validity/4842. Also reviewed by Ariann Tucci (Genomics England) to provide clinical perspective on whether this is applicable for this panel.Created: 25 Jul 2017, 8:48 a.m.
Clear evidence for association with ACHROMATOPSIA 7, but unsure whether this should be included on this panel.Created: 1 Jun 2016, 11:06 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATF6 were changed from Achromatopsia 7 to Achromatopsia 7, 616517
Source NHS GMS was added to ATF6. Rating Changed from Green List (high evidence) to Green List (high evidence)
Phenotypes for ATF6 were set to Achromatopsia 7
Publications for ATF6 were set to 26063662;26029869
Mode of inheritance for ATF6 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
ATF6 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Red
ATF6 was created by ellenmcdonagh