Paroxysmal central nervous system disorders
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: 4 Nov 2021, 4:58 p.m. | Last Modified: 4 Nov 2021, 4:58 p.m.
Panel Version: 1.18
James Polke (Neurogenetics Laboratory, Institute of Neurology, London)
Rebecca Foulger (Genomics England curator)
Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.Created: 2 Sep 2019, 2:39 p.m. | Last Modified: 2 Sep 2019, 2:39 p.m.
Panel Version: 0.26
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust) was collated (February 2019) on behalf of West Midlands, Oxford and Wessex GLH for the GMS Neurology specialist test group.Created: 2 Sep 2019, 1:39 p.m. | Last Modified: 2 Sep 2019, 1:39 p.m.
Panel Version: 0.23
Tracy Lester (Genetics laboratory, Oxford UK)
DRPLA; not paroxysmalCreated: 2 Sep 2019, 1:30 p.m. | Last Modified: 2 Sep 2019, 1:30 p.m.
Panel Version: 0.22
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Dentatorubro-pallidoluysian atrophy
Details
- Mode of Inheritance
- Other
- Sources
-
- Expert Review Red
- NHS GMS
- London North GLH
- Wessex and West Midlands GLH
- 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
Entity classified by Genomics England curator
Rebecca Foulger (Genomics England curator)Gene: atn1 has been classified as Red List (Low Evidence).
Set Phenotypes
Rebecca Foulger (Genomics England curator)Phenotypes for gene: ATN1 were changed from Dentatorubro-pallidoluysian atrophy to Dentatorubro-pallidoluysian atrophy, 125370
Added New Source
Rebecca Foulger (Genomics England curator)Source NHS GMS was added to ATN1.
Added New Source
Rebecca Foulger (Genomics England curator)Source London North GLH was added to ATN1.
Added New Source
Rebecca Foulger (Genomics England curator)Source Wessex and West Midlands GLH was added to ATN1.
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Added phenotypes Dentatorubro-pallidoluysian atrophy for gene: 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 Paroxysmal neurological disorders, pain disorders and sleep disorders. 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 Mode of pathogenicity for gene: ATN1 was set to Other - please provide details in the comments