Early onset dementia (encompassing fronto-temporal dementia and prion disease)Gene: ATN1
Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanism
Created: 4 Nov 2021, 4:58 p.m. | Last Modified: 4 Nov 2021, 4:58 p.m.
Panel Version: 1.50
Comment when marking as ready: Marked as red as currently ngs unreportable
Created: 1 Nov 2017, 12:18 p.m.
Caused by heterozygous repeat expansion
Created: 1 Nov 2017, 12:16 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dentatorubro-pallidoluysian atrophy 125370
Mode of pathogenicity
Phenotypes for gene: ATN1 were changed from Dentatorubro-pallidoluysian atrophy 125370 to Dentatorubral-pallidoluysian atrophy, OMIM:125370
Mode of inheritance for gene: ATN1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to Other
This gene has been classified as Red List (Low Evidence).
ATN1 was added to Early onset dementia (encompassing fronto-temporal dementia and prion disease)panel. Sources: Other
ATN1 was created by arianna