Gene Symbol:
ATN1
HGNC:3033
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
12p13.31
Filters:

Strong classifications

dentatorubral-pallidoluysian atrophy
Submitted as: OMIM:125370
AD
08/18/2021
Evaluated
11/30/2023
Submitted
congenital hypotonia, epilepsy, developmental delay, and digital anomalies
Submitted as: OMIM:618494
AD
01/24/2023
Evaluated
11/30/2023
Submitted

Moderate classifications

congenital hypotonia, epilepsy, developmental delay, and digital anomalies
AD
08/10/2019
Evaluated
10/15/2020
Submitted
Illumina
Evidence: The ATN1 gene is located on chromosome 12 at 12p13.31 and encodes the atrophin1 protein, which is a... Read more
congenital hypotonia, epilepsy, developmental delay, and digital anomalies
Submitted as: OMIM:618494
AD
07/15/2019
Evaluated
03/02/2021
Submitted

Supportive classifications

dentatorubral-pallidoluysian atrophy
Submitted as: Orphanet:101
AD
09/14/2021
Evaluated
09/14/2021
Submitted

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