Ataxia and cerebellar anomalies - narrow panel
STR: ATN1_CAGGRCh37 Position: 7045880-7045936
GRCh38 Position: 6936717-6936772
Repeated Sequence: CAG
Normal Number of Repeats: < 36
Pathogenic Number of Repeats: = or > 48
ATN1 (atrophin 1)
EnsemblGeneIds (GRCh38): ENSG00000111676
EnsemblGeneIds (GRCh37): ENSG00000111676
OMIM: 607462, Gene2Phenotype
ATN1 is in 0 panels
5 reviews
Ida Ertmanska (Genomics England Curator)
Comment on list classification: As reviewed by Luke Stuart, there are numerous individuals reported in literature with ATN1 CAG repeats and juvenile-onset ataxia. Hence, this STR should be promoted to Green on Ataxia and cerebellar anomalies - narrow panel.Created: 24 Jul 2026, 1:03 p.m. | Last Modified: 24 Jul 2026, 1:03 p.m.
Panel Version: 9.10
Luke Stuart (Genomics England Curator)
Ataxia is a prominent feature of Dentatorubral-Pallidoluysian Atrophy (DRPLA), particularly in the adult-onset disease subcategory.
Hasegawa et al. 2010 (PMID 20589872) described the clinical course in 183 DRPLA patients; in patients with CAG repeat numbers >=65 (associated with juvenile- or early-onset disease), onset of ataxia occurred at a median age of 21 years (range 2-60 years, n= 73). Among patients with <65 CAG repeats, age at ataxia onset ranged between 2 and 72 years of age (n= 82).
Maruyama et al. 2012 (PMID 22527233) described a juvenile-onset DRPLA cohort (all patients harbored CAG repeats exceeding 65 units). Ataxia was noted in 5/9 probands, with age at onset ranging from 2 years to 20 years (with 4/5 patients presenting before 16 years of age).
Although ataxia is perhaps a more prominent feature of adult-onset DRPLA, it is also associated with juvenile onset disease and may occur early in the disease course or develop later. Multiple unrelated juvenile probands displaying ataxia warrants a green rating.Created: 24 Jul 2026, 12:32 p.m. | Last Modified: 24 Jul 2026, 12:32 p.m.
Panel Version: 9.10
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Dentatorubral-pallidoluysian atrophy, 125370
Publications
Ivone Leong (Genomics England Curator)
STR repeat lengths have been reviewed and confirmed by the NHS Genomic Medicine Service.Created: 15 Mar 2022, 11:38 a.m. | Last Modified: 15 Mar 2022, 11:38 a.m.
Panel Version: 2.288
Arina Puzriakova (Genomics England Curator)
Comment on list classification: Downgraded from Green to Amber as this STR was not listed on the recent GMS STRs document supplied by Jane Deller (NHS England) on behalf of GLHs for the GMS Neurology Test Group.Created: 8 Oct 2020, 9:08 a.m. | Last Modified: 8 Oct 2020, 9:08 a.m.
Panel Version: 2.15
Louise Daugherty (Genomics England Curator)
Source PanelApp panels : Hereditary ataxia v1.150
Sources: Expert listCreated: 21 Dec 2018, 3:05 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Dentatorubro-pallidoluysian atrophy 125370
Publications
Details
- Name
- ATN1_CAG
- Chromosome
- 12
- GRCh37 Coordinates
- 7045880-7045936
- GRCh38 Coordinates
- 6936717-6936772
- Repeated Sequence
- CAG
- Normal Number of Repeats: <
- 36
- Pathogenic Number of Repeats: = or >
- 48
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- NHS GMS
- Expert Review Amber
- Expert list
- Phenotypes
-
- Dentatorubral-pallidoluysian atrophy, OMIM:125370
- dentatorubral-pallidoluysian atrophy, MONDO:0007435
- Tags
- OMIM
- 607462
- Clinvar variants
- Variants in ATN1
- Penetrance
- None
- Publications
History Filter Activity
Set Phenotypes
Ida Ertmanska (Genomics England Curator)Phenotypes for STR: ATN1_CAG were changed from Dentatorubral-pallidoluysian atrophy, OMIM:125370 to Dentatorubral-pallidoluysian atrophy, OMIM:125370; dentatorubral-pallidoluysian atrophy, MONDO:0007435
Set publications
Ida Ertmanska (Genomics England Curator)Publications for STR: ATN1_CAG were set to 20301664; 8136840; 20301664; 8136840; 8136826; 7614090
Added Tag
Ida Ertmanska (Genomics England Curator)Tag Q3_26_promote_green tag was added to STR: ATN1_CAG.
Removed Tag
Ida Ertmanska (Genomics England Curator)Tag watchlist was removed from STR: ATN1_CAG.
Removed Tag
Eleanor Williams (Genomics England Curator)Tag for-review was removed from STR: ATN1_CAG.
Changed Normal Number of Repeats, Added New Source
Arina Puzriakova (Genomics England Curator)Normal Number of Repeats for ATN1_CAG was changed from 35 to 36. Source NHS GMS was added to STR: ATN1_CAG.
Added Tag
Arina Puzriakova (Genomics England Curator)Tag watchlist tag was added to STR: ATN1_CAG.
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for STR: ATN1_CAG were changed from Dentatorubro-pallidoluysian atrophy 125370 to Dentatorubral-pallidoluysian atrophy, OMIM:125370
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Str: atn1_cag has been classified as Amber List (Moderate Evidence).
Added Tag
Arina Puzriakova (Genomics England Curator)Tag for-review tag was added to STR: ATN1_CAG.
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Louise Daugherty: Source PanelApp panels : Hered
Entity classified by Genomics England curator
Louise Daugherty (Genomics England Curator)Str: atn1_cag has been classified as Green List (High Evidence).
Created, Added New Source, Added Tag, Set mode of inheritance, Set publications, Set Phenotypes
Louise Daugherty (Genomics England Curator)STR: ATN1_CAG was added STR: ATN1_CAG was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert list STR tags were added to STR: ATN1_CAG. Mode of inheritance for STR: ATN1_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for STR: ATN1_CAG were set to 20301664; 8136840; 20301664; 8136840; 8136826; 7614090 Phenotypes for STR: ATN1_CAG were set to Dentatorubro-pallidoluysian atrophy 125370 Review for STR: ATN1_CAG was set to GREEN