Adult onset dystonia, chorea or related movement disorder
Gene: ATN1EnsemblGeneIds (GRCh38): ENSG00000111676
EnsemblGeneIds (GRCh37): ENSG00000111676
OMIM: 607462, Gene2Phenotype
ATN1 is in 14 panels
4 reviews
Arina Puzriakova (Genomics England Curator)
Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanismCreated: 5 Nov 2021, 9:57 a.m. | Last Modified: 5 Nov 2021, 9:57 a.m.
Panel Version: 1.126
James Polke (Neurogenetics Laboratory, Institute of Neurology, London)
Louise Daugherty (Genomics England Curator)
As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene RedCreated: 5 Aug 2019, 2:44 p.m. | Last Modified: 5 Aug 2019, 2:44 p.m.
Panel Version: 0.90
Entity and rating to be discussed by the Neurology Test Group in July 2019 to confirm rating. This panel was initially created as a merge of genomic entities from the following Rare Disease 100K panels - Early onset dystonia (v1.76, code 192) - Parkinson Disease and Complex Parkinsonism (v1.64, code 39) - Brain channelopathy (v1.48, code 90) - Structural basal ganglia disorders (v1.10, code 180).
This gene was uploaded from the curation template sent out to the GLHs for GMS Neurology specialist test group as it is a RED gene on the Brain channelopathy panel. The GREEN review from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) is likely to relate to the STR ATN1_CAG and not the gene entity, as there are no SNVs for this gene being associated to the disorder, this gene is rated RED.Created: 19 Jun 2019, 1:39 p.m.
Review and rating submitted by James Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.Created: 23 Apr 2019, 1:19 p.m.
Review and rating from Emily Jones (North Bristol NHS Trust) on behalf of South West GLH for GMS Neurology specialist test group.Created: 23 Apr 2019, 12:18 p.m.
Emily Jones (North Bristol NHS Trust)
Trinucleotide repeat expansion.Created: 23 Apr 2019, 12:14 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Dentatorubro-pallidoluysian atrophy 125370
Details
- Mode of Inheritance
- Other
- Sources
-
- London North GLH
- NHS GMS
- South West GLH
- Expert Review Red
- Phenotypes
-
- Dentatorubral-pallidoluysian atrophy, OMIM:125370
- Tags
- OMIM
- 607462
- Clinvar variants
- Variants in ATN1
- Penetrance
- None
- 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
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: ATN1 were changed from Dentatorubro-pallidoluysian atrophy 125370 to Dentatorubral-pallidoluysian atrophy, OMIM:125370
Added Tag, Added Tag
Arina Puzriakova (Genomics England Curator)Tag nucleotide-repeat-expansion tag was added to gene: ATN1. Tag currently-ngs-unreportable tag was added to gene: ATN1.
Set mode of inheritance
Arina Puzriakova (Genomics England Curator)Mode of inheritance for gene: ATN1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to Other
Added New Source
Louise Daugherty (Genomics England Curator)Source London North GLH was added to ATN1.
Set Phenotypes
Louise Daugherty (Genomics England Curator)Added phenotypes Dentatorubro-pallidoluysian atrophy 125370 for gene: ATN1
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to ATN1.
Added New Source
Louise Daugherty (Genomics England Curator)Source South West GLH was added to ATN1.
Created, Added New Source, Set mode of inheritance, Set Phenotypes, Set mode of pathogenicity
Ellen McDonagh (Genomics England Curator)gene: ATN1 was added gene: ATN1 was added to Adult onset movement disorder. Sources: Expert Review Red Mode of inheritance for gene: ATN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ATN1 were set to Dentatorubro-pallidoluysian atrophy 125370 Mode of pathogenicity for gene: ATN1 was set to Other - please provide details in the comments