Hereditary ataxia
Gene: ATN1
ATN1 (atrophin 1)
EnsemblGeneIds (GRCh38): ENSG00000111676
EnsemblGeneIds (GRCh37): ENSG00000111676
OMIM: 607462, Gene2Phenotype
ATN1 is in 14 panels
EnsemblGeneIds (GRCh38): ENSG00000111676
EnsemblGeneIds (GRCh37): ENSG00000111676
OMIM: 607462, Gene2Phenotype
ATN1 is in 14 panels
5 reviews
Arina Puzriakova (Genomics England Curator)
Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanismCreated: 4 Nov 2021, 5:05 p.m. | Last Modified: 4 Nov 2021, 5:05 p.m.
Panel Version: 1.246
Alice Gardham (Genomics England)
Comment on mode of inheritance: Nucleotide repeat expansion. Tagged 1.12.16 by Alice GardhamCreated: 1 Dec 2016, 4:04 p.m.
Ellen McDonagh (Genomics England Curator)
Comment on mode of pathogenicity: Added 'currently-NGS-unreportable' tag.Created: 30 Nov 2016, 5:10 p.m.
emma baple (Genomics England Curator)
Comment when marking as ready: good evidence, but trinucleotide repeat so currently not appropriateCreated: 11 Jul 2016, 4:14 a.m.
Jonathan Williams (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust)
DRPLA, repeat expansion. NOT APPROPRIATECreated: 24 Nov 2015, 4:57 p.m.
Mode of pathogenicity
Other - please provide details in the comments
Details
- Mode of Inheritance
- Other
- Sources
-
- Expert Review Red
- Eligibility statement prior genetic testing
- Phenotypes
-
- Dentatorubral-pallidoluysian atrophy, OMIM:125370
- Tags
- OMIM
- 607462
- Clinvar variants
- Variants in ATN1
- Penetrance
- Complete
- Mode of Pathogenicity
- Other - please provide details in the comments
- Panels with this gene
-
- Adult onset dystonia, chorea or related movement disorder
- DDG2P
- Adult onset neurodegenerative disorder
- Hereditary ataxia with onset in adulthood
- Early onset dementia (encompassing fronto-temporal dementia and prion disease)
- Parkinson Disease and Complex Parkinsonism
- Ataxia and cerebellar anomalies - narrow panel
- Hereditary ataxia
- Early onset or syndromic epilepsy
- Brain channelopathy
- Fetal anomalies
- Paroxysmal central nervous system disorders
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
5 Nov 2021, Gel status: 1
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: ATN1 were changed from to Dentatorubral-pallidoluysian atrophy, OMIM:125370
4 Nov 2021, Gel status: 1
Set mode of inheritance
Arina Puzriakova (Genomics England Curator)Mode of inheritance for gene: ATN1 was changed from Other - please specifiy in evaluation comments to Other
1 Dec 2016, Gel status: 1
Set Mode of Inheritance
Alice Gardham (Genomics England)Mode of inheritance for ATN1 was changed to Other - please specifiy in evaluation comments
30 Nov 2016, Gel status: 1
Set mode of pathogenicity
Ellen McDonagh (Genomics England Curator)Mode of pathogenicity for ATN1 was changed to Other - please provide details in the comments
11 Jul 2016, Gel status: 1
Gene classified by Genomics England curator
emma baple (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
12 Aug 2015, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)ATN1 was added to Hereditary ataxiapanel. Sources: Eligibility statement prior genetic testing