Hereditary ataxia
STR: ATXN7_CAGGRCh37 Position: 63898362-63898391
GRCh38 Position: 63912686-63912715
Repeated Sequence: CAG
Normal Number of Repeats: < 28
Pathogenic Number of Repeats: = or > 37
ATXN7 (ataxin 7)
EnsemblGeneIds (GRCh38): ENSG00000163635
EnsemblGeneIds (GRCh37): ENSG00000163635
OMIM: 607640, Gene2Phenotype
ATXN7 is in 0 panels
4 reviews
Eleanor Williams (Genomics England Curator)
STR repeat lengths have been reviewed and confirmed by the NHS Genomic Medicine Service.Created: 15 Mar 2022, 12:22 p.m. | Last Modified: 15 Mar 2022, 12:22 p.m.
Panel Version: 1.298
Arianna Tucci (Genomics England Curator)
Comment when marking as ready: Marked as ready following the Webex discussion with experts from the GMCs (6/09/2018) about feeding back STR resultsCreated: 5 Dec 2018, 12:59 p.m.
Louise Daugherty (Genomics England Curator)
added STR tagCreated: 31 May 2018, 4:05 p.m.
Ellen McDonagh (Genomics England Curator)
The number of normal repeats was changed from 18 to 34.Created: 6 Jun 2018, 1:29 p.m.
Comments from Arianna Tucci: Marked anticipation. Anticipation in a family may be so dramatic that a child may be diagnosed with what is thought to be a sporadic neurodegenerative disease years before a parent or grandparent with an ATXN7 CAG repeat expansion becomes symptomatic (15349877).Created: 31 May 2018, 2:20 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Spinocerebellar ataxia 7 164500
Variants in this STR are reported as part of current diagnostic practice
Details
- Name
- ATXN7_CAG
- Chromosome
- 3
- GRCh37 Coordinates
- 63898362-63898391
- GRCh38 Coordinates
- 63912686-63912715
- Repeated Sequence
- CAG
- Normal Number of Repeats: <
- 28
- Pathogenic Number of Repeats: = or >
- 37
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- NHS GMS
- Expert list
- Phenotypes
-
- Spinocerebellar ataxia 7, OMIM:164500
- Tags
- OMIM
- 607640
- Clinvar variants
- Variants in ATXN7
- Penetrance
- None
History Filter Activity
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Str: atxn7_cag has been classified as Green List (High Evidence).
Changed Normal Number of Repeats, Changed Pathogenic Number of Repeats, Added New Source, Status Update
Arina Puzriakova (Genomics England Curator)Normal Number of Repeats for ATXN7_CAG was changed from 34 to 28. Pathogenic Number of Repeats for ATXN7_CAG was changed from 36 to 37. Source NHS GMS was added to STR: ATXN7_CAG. Rating Changed from Green List (high evidence) to Red List (low evidence)
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for STR: ATXN7_CAG were changed from Spinocerebellar ataxia 7 164500 to Spinocerebellar ataxia 7, OMIM:164500
Entity classified by Genomics England curator
Arianna Tucci (Genomics England Curator)Str: atxn7_cag has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Arianna Tucci (Genomics England Curator)Str: atxn7_cag has been classified as Red List (Low Evidence).
Changed Normal Number of Repeats
Ellen McDonagh (Genomics England Curator)Normal Number of Repeats for ATXN7_CAG was changed from 18 to 34. Panel: Hereditary ataxia
Added New Source
Ellen McDonagh (Genomics England Curator)STR: ATXN7_CAG was added to Hereditary ataxia panel. Sources: Expert list
Created
Ellen McDonagh (Genomics England Curator)STR: ATXN7_CAG was created by Ellen McDonagh