Optic neuropathy

Gene: ATG7

Green List (high evidence)

The rating of this gene has been updated to Green and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.

Created: 30 Jan 2023, 1:02 p.m. | Last Modified: 30 Jan 2023, 1:02 p.m.

Panel Version: 3.7

Comment on list classification: New gene added by Zornitza Stark and based on the evidence provided this gene should be promoted to Green at the next GMS panel update. ATG7 is associated with a relevant phenotype in OMIM (MIM# 34161705) and has a 'strong' disease confidence classification for this phenotype in G2P.

Collier et al. 2021 (PMID: 34161705) identified 5 unrelated families with distinct ATG7 variants and a neurodevelopmental disorder which mainly comprised cerebellar ataxia (11/11), mild-to-severe ID (12/12), optic atrophy (7/11), among other features.

Created: 27 Jul 2022, 1:58 p.m. | Last Modified: 27 Jul 2022, 1:58 p.m.

Panel Version: 2.298

Green List (high evidence)

12 individuals from 5 unrelated families reported with a complex neurodevelopmental disorder and bi-allelic variants in this gene. Age range from 21 months to 71 years of age. Main clinical features included axial hypotonia, variably impaired intellectual development with poor or absent speech, and delayed walking (up to 7 years of age) or inability to walk. All had ataxia, often with tremor or dyskinesia, as well as dysarthria associated with cerebellar hypoplasia on brain imaging. Most had optic atrophy, and some had ptosis, chronic progressive external ophthalmoplegia, retinopathy, and strabismus; 1 had early-onset cataracts. The more severely affected individuals had spastic paraplegia and inability to walk.

Functional data including mouse model.
Sources: Literature

Created: 7 Aug 2021, 1:48 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spinocerebellar ataxia, SCAR31, MIM#619422

Publications

• 34161705