This Panel is marked as Internal
Dystonia - childhood onset
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
0 reviews
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Phenotypes
-
- Dentatorubro-pallidoluysian atrophy 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
-
- Childhood onset dystonia, chorea or related movement disorder
- Adult onset neurodegenerative disorder
- Intellectual disability
- Ataxia and cerebellar anomalies - narrow panel
- Paroxysmal central nervous system disorders
- Fetal anomalies
- Early onset dementia (encompassing fronto-temporal dementia and prion disease)
- Parkinson Disease and Complex Parkinsonism
- Hereditary ataxia with onset in adulthood
- Adult onset dystonia, chorea or related movement disorder
- Hereditary ataxia
- DDG2P
- Brain channelopathy
- Early onset or syndromic epilepsy
History Filter Activity
9 Jan 2019, Gel status: 1
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Eleanor Williams: Updated to green when making t
19 Dec 2018, Gel status: 1
Added Tag, Added Tag
Eleanor Williams (Genomics England Curator)Tag nucleotide-repeat-expansion tag was added to gene: ATN1. Tag currently-ngs-unreportable tag was added to gene: ATN1.
19 Dec 2018, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes, Set mode of pathogenicity
Eleanor Williams (Genomics England Curator)gene: ATN1 was added gene: ATN1 was added to Dystonia - childhood onset. 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