Genes in panel

Ataxia and cerebellar anomalies - narrow panel

Gene: ATG7

No list

ATG7 (autophagy related 7)
EnsemblGeneIds (GRCh38): ENSG00000197548
EnsemblGeneIds (GRCh37): ENSG00000197548
OMIM: 608760, Gene2Phenotype
ATG7 is in 1 panel

1 review

Zornitza Stark (Australian Genomics)

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Spinocerebellar ataxia, SCAR31, MIM#619422
OMIM
608760
Clinvar variants
Variants in ATG7
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Aug 2021, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Australian Genomics)

gene: ATG7 was added gene: ATG7 was added to Ataxia and cerebellar anomalies - narrow panel. 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