Hereditary neuropathy or pain disorder
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
1 review
Sarah Leigh (Genomics England Curator)
The rating of this STR has been updated to green following NHS Genomic Medicine Service approval.Created: 25 Feb 2025, 10:32 a.m. | Last Modified: 25 Feb 2025, 10:32 a.m.
Panel Version: 6.154
ATXN7_CAG added to Hereditary neuropathy or pain disorder panel on the recommendation of Alex Rossor (UCL Institute of Neurology), who recommended its promotion to Green.
Sources: NHS GMSCreated: 21 Oct 2024, 4:23 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Ataxia neuropathy syndromes
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
- 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
Sarah Leigh (Genomics England Curator)Str: atxn7_cag has been classified as Green List (High Evidence).
Removed Tag, Removed Tag
Sarah Leigh (Genomics England Curator)Tag Q3_24_promote_green was removed from STR: ATXN7_CAG. Tag Q3_24_NHS_review was removed from STR: ATXN7_CAG.
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for STR: ATXN7_CAG were changed from Ataxia neuropathy syndromes to Spinocerebellar ataxia 7, OMIM:164500
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Str: atxn7_cag has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Added Tag, Set mode of inheritance, Set Phenotypes
Sarah Leigh (Genomics England Curator)STR: ATXN7_CAG was added STR: ATXN7_CAG was added to Hereditary neuropathy or pain disorder. Sources: NHS GMS Q3_24_promote_green, Q3_24_NHS_review, STR tags were added to STR: ATXN7_CAG. Mode of inheritance for STR: ATXN7_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for STR: ATXN7_CAG were set to Ataxia neuropathy syndromes Review for STR: ATXN7_CAG was set to GREEN