ATN1 Chromosome 12
Atrophin 1
Upload your DNA to see your personal genotypes for variants in ATN1.
What This Gene Does
Dentatorubral pallidoluysian atrophy (DRPLA) is a rare neurodegenerative disorder characterized by cerebellar ataxia, myoclonic epilepsy, choreoathetosis, and dementia. The disorder is related to the expansion from 7-35 copies to 49-93 copies of a trinucleotide repeat (CAG/CAA) within this gene. The encoded protein includes a serine repeat and a region of alternating acidic and basic amino acids, as well as the variable glutamine repeat. Alternative splicing results in two transcripts variants that encode the same protein. [provided by RefSeq, Jul 2016]
Gene Info
Gene Group
Atrophins
Locus Type
gene with protein product
Location
12p13.31
Ensembl
ENSG00000111676
Associated Conditions (9)
Inborn genetic diseases
See cases
Congenital hypotonia
epilepsy
developmental delay
and digital anomalies
Dentatorubral-pallidoluysian atrophy
ATN1-related disorder
Congenital ATN1 related disorder
Key Variants
RS1046932020
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS147993402
Conflicting classifications of pathogenicity
Health Risk
RS150801397
Conflicting classifications of pathogenicity
See cases, Inborn genetic diseases, See cases
Health Risk
RS150855426
Conflicting classifications of pathogenicity
Health Risk
RS1555143796
Conflicting classifications of pathogenicity
Health Risk
RS199585821
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2138219948
Conflicting classifications of pathogenicity
Congenital hypotonia, epilepsy, developmental delay
Health Risk
RS60216939
Conflicting classifications of pathogenicity
Dentatorubral-pallidoluysian atrophy, Dentatorubral-pallidoluysian atrophy, Dentatorubral-pallidoluysian atrophy
Health Risk
RS782288066
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2138219961
Likely pathogenic
Congenital hypotonia, epilepsy, developmental delay
Health Risk
RS797044566
Likely pathogenic
Congenital hypotonia, epilepsy, developmental delay
Health Risk
RS967375653
Likely pathogenic
Congenital hypotonia, epilepsy, developmental delay
Health Risk
All Variants (18)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1046932020 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS147993402 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS150801397 | Health Risk | Conflicting classifications of pathogenicity | See cases, Inborn genetic diseases, See cases |
| RS150855426 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1555143796 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS199585821 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS2138219948 | Health Risk | Conflicting classifications of pathogenicity | Congenital hypotonia, epilepsy, developmental delay |
| RS60216939 | Health Risk | Conflicting classifications of pathogenicity | Dentatorubral-pallidoluysian atrophy, Dentatorubral-pallidoluysian atrophy, Dentatorubral-pallidoluysian atrophy |
| RS782288066 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS2138219961 | Health Risk | Likely pathogenic | Congenital hypotonia, epilepsy, developmental delay |
| RS797044566 | Health Risk | Likely pathogenic | Congenital hypotonia, epilepsy, developmental delay |
| RS967375653 | Health Risk | Likely pathogenic | Congenital hypotonia, epilepsy, developmental delay |
| RS1555144357 | Health Risk | Pathogenic | Congenital ATN1 related disorder, Congenital hypotonia, epilepsy |
| RS1555144358 | Health Risk | Pathogenic | Congenital ATN1 related disorder, Congenital hypotonia, epilepsy |
| RS1555144360 | Health Risk | Pathogenic | Congenital ATN1 related disorder, Congenital ATN1 related disorder |
| RS2138219913 | Health Risk | Pathogenic | Congenital hypotonia, epilepsy, developmental delay |
| RS1565569158 | Health Risk | Pathogenic/Likely pathogenic | Congenital ATN1 related disorder, Congenital hypotonia, epilepsy |
| RS2138219892 | Health Risk | Pathogenic/Likely pathogenic | Congenital hypotonia, epilepsy, developmental delay |