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  2. Adult onset dystonia, chorea or related movement disorder
  3. ATN1_CAG
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Adult onset dystonia, chorea or related movement disorder

STR: ATN1_CAG

Green List (high evidence)
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, 11:38 a.m. | Last Modified: 15 Mar 2022, 11:38 a.m.
Panel Version: 1.166
Created: 15 Mar 2022, 11:38 a.m.
Last Modified: 15 Mar 2022, 11:38 a.m.
Panel version: 1.166

Louise Daugherty (Genomics England Curator)

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, 3:06 p.m. | Last Modified: 5 Aug 2019, 3:06 p.m.
Panel Version: 0.91
Source PanelApp panels : Parkinson Disease and Complex Parkinsonism v1.64, Brain channelopathy v1.48
Sources: Expert list
Created: 11 Jan 2019, 1:08 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Dentatorubro-pallidoluysian atrophy 125370

Publications

Created: 11 Jan 2019, 1:08 p.m.

Panel version: 0.91

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 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

5 Aug 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to STR: ATN1_CAG.

11 Jan 2019, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Str: atn1_cag has been classified as Green List (High Evidence).

11 Jan 2019, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for STR: ATN1_CAG were changed from Dentatorubro-pallidoluysian atrophy 125370 to Dentatorubro-pallidoluysian atrophy 125370

11 Jan 2019, Gel status: 1

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 Adult onset movement disorder. 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