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Genetic Epilepsy

STR: ATN1_DRPLA_CAG

Green List (high evidence)

Chromosome: 12
GRCh37 Position: 7045892-7045936
GRCh38 Position: 6936729-6936773
Repeated Sequence: CAG
Normal Number of Repeats: < or = 32
Pathogenic Number of Repeats: = or > 48

ATN1 (atrophin 1)
EnsemblGeneIds (GRCh38): ENSG00000111676
EnsemblGeneIds (GRCh37): ENSG00000111676
OMIM: 607462, Gene2Phenotype
ATN1 is in 11 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

NM_001007026​.1:c.1462_1464CAG[X]
Toxic gain of function mechanism of disease
Benign: ≤35 repeats
Mutable normal: 20-35 repeats
Pathogenic: ≥48 repeats
Age <20 years: ≥63 repeats - ataxia, myoclonus, seizures, progressive intellectual deterioration Age 21-40 years 61-69 repeats, >40 years 48-67 repeats: ataxia, choreoathetosis, dementia, psychiatric disturbance
Sources: Expert list
Created: 25 Apr 2025, 5:30 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Dentatorubral-pallidoluysian atrophy MIM#125370

Publications

Variants in this STR are reported as part of current diagnostic practice

Clinically Relevant

Interruptions in the repeated sequence are reported as part of standard diagnostic practise

Details

Name
ATN1_DRPLA_CAG
Chromosome
12
GRCh37 Coordinates
7045892-7045936
GRCh38 Coordinates
6936729-6936773
Repeated Sequence
CAG
Normal Number of Repeats: < or =
32
Pathogenic Number of Repeats: = or >
48
Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Dentatorubral-pallidoluysian atrophy MIM#125370
OMIM
607462
Clinvar variants
Variants in ATN1
Penetrance
None
Publications

History Filter Activity

25 Apr 2025, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Str: atn1_drpla_cag has been classified as Green List (High Evidence).

25 Apr 2025, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Str: atn1_drpla_cag has been classified as Green List (High Evidence).

25 Apr 2025, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

STR: ATN1_DRPLA_CAG was added STR: ATN1_DRPLA_CAG was added to Genetic Epilepsy. Sources: Expert list Mode of inheritance for STR: ATN1_DRPLA_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for STR: ATN1_DRPLA_CAG were set to 8136840; 8136826; 29325606; 20301664 Phenotypes for STR: ATN1_DRPLA_CAG were set to Dentatorubral-pallidoluysian atrophy MIM#125370 Review for STR: ATN1_DRPLA_CAG was set to GREEN STR: ATN1_DRPLA_CAG was marked as clinically relevant STR: ATN1_DRPLA_CAG was marked as current diagnostic