This Panel is marked as Deleted
GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH
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
1 review
Emily Jones (North Bristol NHS Trust)
Trinucleotide repeat expansion.Created: 9 Jul 2019, 3:59 p.m. | Last Modified: 9 Jul 2019, 3:59 p.m.
Panel Version: 0.10
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- South West GLH
- Phenotypes
-
- Dentatorubro-pallidoluysian atrophy, 125370
- OMIM
- 607462
- Clinvar variants
- Variants in ATN1
- Penetrance
- None
- Panels with this gene
-
- Hereditary ataxia with onset in adulthood
- DDG2P
- Fetal anomalies
- Intellectual disability
- Hereditary ataxia
- Paroxysmal central nervous system disorders
- Adult onset neurodegenerative disorder
- Early onset dementia (encompassing fronto-temporal dementia and prion disease)
- Early onset or syndromic epilepsy
- Childhood onset dystonia, chorea or related movement disorder
- Brain channelopathy
- Parkinson Disease and Complex Parkinsonism
- Adult onset dystonia, chorea or related movement disorder
- Ataxia and cerebellar anomalies - narrow panel
History Filter Activity
9 Jul 2019, Gel status: 1
Set mode of inheritance, Set Phenotypes
Louise Daugherty (Genomics England Curator)Mode of inheritance for gene ATN1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Dentatorubro-pallidoluysian atrophy, 125370 for gene: ATN1
2 Apr 2019, Gel status: 1
Added New Source
Louise Daugherty (Genomics England Curator)Source Expert Review Red was added to ATN1.
2 Apr 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance
Louise Daugherty (Genomics England Curator)gene: ATN1 was added gene: ATN1 was added to GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH. Sources: South West GLH Mode of inheritance for gene: ATN1 was set to