Ataxia and cerebellar anomalies - narrow panel
STR: ATXN1_CAGGRCh37 Position: 16327867-16327953
GRCh38 Position: 16327636-16327722
Repeated Sequence: CAG
Normal Number of Repeats: < 36
Pathogenic Number of Repeats: = or > 45
ATXN1 (ataxin 1)
EnsemblGeneIds (GRCh38): ENSG00000124788
EnsemblGeneIds (GRCh37): ENSG00000124788
OMIM: 601556, Gene2Phenotype
ATXN1 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, 11:42 a.m. | Last Modified: 15 Mar 2022, 11:42 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 STRs document supplied by Jane Deller (NHS England) on behalf of GLHs for the GMS Neurology Test GroupCreated: 8 Oct 2020, 9:11 a.m. | Last Modified: 8 Oct 2020, 9:11 a.m.
Panel Version: 2.17
Louise Daugherty (Genomics England Curator)
Source PanelApp panels : Hereditary ataxia v1.150
Sources: Expert listCreated: 21 Dec 2018, 3:09 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Spinocerebellar ataxia 1 164400
Details
- Name
- ATXN1_CAG
- Chromosome
- 6
- GRCh37 Coordinates
- 16327867-16327953
- GRCh38 Coordinates
- 16327636-16327722
- Repeated Sequence
- CAG
- Normal Number of Repeats: <
- 36
- Pathogenic Number of Repeats: = or >
- 45
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- NHS GMS
- Expert Review Amber
- Expert list
- Phenotypes
-
- Spinocerebellar ataxia 1, OMIM:164400
- Tags
- OMIM
- 601556
- Clinvar variants
- Variants in ATXN1
- Penetrance
- None
History Filter Activity
Removed Tag
Eleanor Williams (Genomics England Curator)Tag for-review was removed from STR: ATXN1_CAG.
Changed Normal Number of Repeats, Changed Pathogenic Number of Repeats, Added New Source
Arina Puzriakova (Genomics England Curator)Normal Number of Repeats for ATXN1_CAG was changed from 35 to 36. Pathogenic Number of Repeats for ATXN1_CAG was changed from 44 to 45. Source NHS GMS was added to STR: ATXN1_CAG.
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for STR: ATXN1_CAG were changed from Spinocerebellar ataxia 1 164400 to Spinocerebellar ataxia 1, OMIM:164400
Added Tag
Arina Puzriakova (Genomics England Curator)Tag watchlist tag was added to STR: ATXN1_CAG.
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Str: atxn1_cag has been classified as Amber List (Moderate Evidence).
Added Tag
Arina Puzriakova (Genomics England Curator)Tag for-review tag was added to STR: ATXN1_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: atxn1_cag has been classified as Green List (High Evidence).
Created, Added New Source, Added Tag, Set mode of inheritance, Set Phenotypes
Louise Daugherty (Genomics England Curator)STR: ATXN1_CAG was added STR: ATXN1_CAG was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert list STR tags were added to STR: ATXN1_CAG. Mode of inheritance for STR: ATXN1_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for STR: ATXN1_CAG were set to Spinocerebellar ataxia 1 164400 Review for STR: ATXN1_CAG was set to GREEN