Retinal disorders
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
2 reviews
Sarah Leigh (Genomics England Curator)
The rating of this STR has been updated to green following NHS Genomic Medicine Service approval.Created: 26 Sep 2024, 4:29 p.m. | Last Modified: 26 Sep 2024, 4:29 p.m.
Panel Version: 6.7
ATXN7_CAG expansions have been associated Spinocerebellar ataxia 7 (OMIM:164500) and as definitive Gen2Phen entity for the same condition. At least six families with have been reported carrying ATXN7_CAG expansions, showing segregation with the condition and genetic anticipation in successive generations (PMID: 27632585;9288099).Created: 24 Jun 2024, 4:57 p.m. | Last Modified: 24 Jun 2024, 4:57 p.m.
Panel Version: 5.15
Siying Lin (Moorfields Eye Hospital)
PMID: 27632585 (father of proband), this ARVO abstract ( https://iovs.arvojournals.org/article.aspx?articleid=2768575) and cases from our clinical cohort, demonstrate that affected individuals can present with a seemingly isolated maculopathy or cone-rod dystrophy that precedes the onset of neurological symptoms
Sources: LiteratureCreated: 21 Feb 2024, 2:30 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Maculopaty; Cone-Rod Dystrophy
Publications
- PMID: 27632585,
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
- Phenotypes
-
- Spinocerebellar ataxia 7, OMIM:164500
- autosomal dominant cerebellar ataxia type II, MONDO:0016163
- Tags
- OMIM
- 607640
- Clinvar variants
- Variants in ATXN7
- Penetrance
- None
- Publications
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 Q2_24_promote_green was removed from STR: ATXN7_CAG. Tag Q2_24_NHS_review was removed from STR: ATXN7_CAG.
Added Tag, Added Tag, Added Tag
Sarah Leigh (Genomics England Curator)Tag STR tag was added to STR: ATXN7_CAG. Tag Q2_24_promote_green tag was added to STR: ATXN7_CAG. Tag Q2_24_NHS_review tag was added to STR: ATXN7_CAG.
Set publications
Sarah Leigh (Genomics England Curator)Publications for STR: ATXN7_CAG were set to 27632585
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Str: atxn7_cag has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for STR: ATXN7_CAG were changed from Maculopaty; Cone-Rod Dystrophy to Spinocerebellar ataxia 7, OMIM:164500; autosomal dominant cerebellar ataxia type II, MONDO:0016163
Set publications
Sarah Leigh (Genomics England Curator)Publications for STR: ATXN7_CAG were set to PMID: 27632585,
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Siying Lin (Moorfields Eye Hospital)STR: ATXN7_CAG was added STR: ATXN7_CAG was added to Retinal disorders. Sources: Literature Mode of inheritance for STR: ATXN7_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for STR: ATXN7_CAG were set to PMID: 27632585, Phenotypes for STR: ATXN7_CAG were set to Maculopaty; Cone-Rod Dystrophy Review for STR: ATXN7_CAG was set to GREEN