Optic Atrophy
Gene: ATG7
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: LiteratureCreated: 13 Jul 2021, 11:12 p.m. | Last Modified: 13 Jul 2021, 11:13 p.m.
Panel Version: 0.135
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spinocerebellar ataxia, SCAR31, MIM#619422
Publications
Gene: atg7 has been classified as Green List (High Evidence).
Gene: atg7 has been classified as Green List (High Evidence).
gene: ATG7 was added gene: ATG7 was added to Optic Atrophy. Sources: Literature Mode of inheritance for gene: ATG7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATG7 were set to 34161705 Phenotypes for gene: ATG7 were set to Spinocerebellar ataxia, SCAR31, MIM#619422 Review for gene: ATG7 was set to GREEN