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
3 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: 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
- Tags
- OMIM
- 607462
- Clinvar variants
- Variants in ATN1
- Penetrance
- None
- Publications
History Filter Activity
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