Retinal disorders
Gene: ATF6

ATF6 (activating transcription factor 6)
EnsemblGeneIds (GRCh38): ENSG00000118217
EnsemblGeneIds (GRCh37): ENSG00000118217
OMIM: 605537, Gene2Phenotype
ATF6 is in 1 panel

3 reviews

Gavin Arno (UCL Institute of Ophthalmology/Moorfields Eye Hospital)

Green List (high evidence)

Created: 30 Aug 2019, 2:12 p.m.
Last Modified: 30 Aug 2019, 2:12 p.m.
Panel version: 1.159

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Achromatopsia 7

Variants in this GENE are reported as part of current diagnostic practice

Created: 17 Jan 2017, 4:29 p.m.

Panel version: 1.14

Ellen McDonagh (Genomics England Curator)

I don't know

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

Created: 1 Jun 2016, 11:06 a.m.

Panel version: 0.173

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

NHS GMS
Expert Review Green

Phenotypes

Achromatopsia 7, 616517

OMIM

605537

Clinvar variants

Variants in ATF6

Penetrance

Complete

Publications

Panels with this gene

Retinal disorders

History Filter Activity

19 Nov 2019, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: ATF6 were changed from Achromatopsia 7 to Achromatopsia 7, 616517

3 Apr 2019, Gel status: 3

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to ATF6. Rating Changed from Green List (high evidence) to Green List (high evidence)

25 Jul 2017, Gel status: 4