Hereditary ataxia with onset in adulthood
STR: ATN1_CAG

Chromosome: 12
GRCh37 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

2 reviews

Ivone Leong (Genomics England Curator)

STR repeat lengths have been reviewed and confirmed by the NHS Genomic Medicine Service.
Created: 15 Mar 2022, 11:39 a.m. | Last Modified: 15 Mar 2022, 11:39 a.m.

Panel Version: 2.147

Created: 15 Mar 2022, 11:39 a.m.
Last Modified: 15 Mar 2022, 11:39 a.m.
Panel version: 2.147

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this STR Green
Created: 5 Aug 2019, 3:09 p.m. | Last Modified: 5 Aug 2019, 3:09 p.m.

Panel Version: 1.194

Green rating for STR submitted on behalf of James Polke, on behalf of London North GLH for GMS Neurology specialist test group. Comment: DRPLA. Triplet repeat. Asked for by Prof Giunti sometimes with ataxia patients with signs of dementia etc.
Created: 27 Apr 2019, 9:31 p.m. | Last Modified: 7 Jul 2019, 3:37 p.m.

Panel Version: 1.174

Source PanelApp panels : Hereditary ataxia 1.148, Brain channelopathy 1.46
Sources: Expert list
Created: 21 Dec 2018, 12:12 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
entatorubro-pallidoluysian atrophy 125370

Created: 21 Dec 2018, 12:12 p.m.
Last Modified: 7 Jul 2019, 3:37 p.m.
Panel version: 1.194

Details

Name

ATN1_CAG

Chromosome

GRCh37 Coordinates

7045880-7045936

GRCh38 Coordinates

6936717-6936772

Repeated Sequence

CAG

Normal Number of Repeats: <

Pathogenic Number of Repeats: = or >

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

London North GLH
NHS GMS
Wessex and West Midlands GLH
Expert Review Green
Expert list

Phenotypes

Dentatorubral-pallidoluysian atrophy, OMIM:125370

Tags

STR

OMIM

607462

Clinvar variants

Variants in ATN1

Penetrance

None

Publications

History Filter Activity

10 Mar 2022, Gel status: 3

Changed Normal Number of Repeats

Arina Puzriakova (Genomics England Curator)

Normal Number of Repeats for ATN1_CAG was changed from 35 to 36.

5 Nov 2021, Gel status: 3

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

7 Jul 2019, Gel status: 3