Ataxia - adult onset

Gene: ATN1

Green List (high evidence)

Comment on list classification: Note: trinucleotide repeat is the only cause of ataxia for this gene. STRs are currently not detectable in WES/WGS technologies.

Created: 18 Apr 2020, 3:32 a.m. | Last Modified: 18 Apr 2020, 3:32 a.m.

Panel Version: 0.34

DRPLA contains various combinations of myoclonus, seizures, ataxia, choreoathetosis, and dementia, and is only caused by trinucleotide repeat expansion. Mean age of onset is 30 years of age.
From OMIM: In 22 patients unstable expansion of a CAG unit in the DRPLA gene was identified. Each patient was a heterozygote with 1 allele in the normal range (8-25 repeat units) and a second expanded allele with the range of 54-68 repeat units. There were no overlaps in the number of CAG repeat units between control chromosomes and DRPLA chromosomes.
Sources: Expert list

Created: 18 Apr 2020, 3:24 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Dentatorubral-pallidoluysian atrophy MIM#125370

Publications

• 7633415

Mode of pathogenicity
Other

Green List (high evidence)

Eight unrelated individuals with de novo heterozygous variants in this gene and syndromic ID; all variants result in substitutions within the highly conserved 16-amino acid histidine-rich 'HX repeat' motif near the C terminus.

Created: 11 Dec 2019, 4 a.m. | Last Modified: 11 Dec 2019, 4 a.m.

Panel Version: 0.225

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Congenital hypotonia, epilepsy, developmental delay, and digital anomalies, MIM#618494

Publications

• 30827498