Adult onset neurodegenerative 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: 4 Nov 2021, 4:55 p.m. | Last Modified: 4 Nov 2021, 4:58 p.m.
Panel Version: 2.202
Nick Beauchamp (Sheffield Diagnostic Genetics Service)
Point mutations not associated with DRPLACreated: 23 Jul 2019, 3:35 p.m. | Last Modified: 23 Jul 2019, 3:35 p.m.
Panel Version: 1.72
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Dentatorubro-pallidoluysian atrophy 125370
Louise Daugherty (Genomics England Curator)
As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene RedCreated: 20 Sep 2019, 4:19 p.m. | Last Modified: 20 Sep 2019, 4:19 p.m.
Panel Version: 1.106
Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.Created: 23 Jul 2019, 3:51 p.m. | Last Modified: 23 Jul 2019, 3:51 p.m.
Panel Version: 1.74
Review and rating from Anthony Dallosso (Bristol Genetics Laboratory), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.Created: 23 Apr 2019, 3:05 p.m.
Anthony Dallosso (Bristol Genetics Laboratory)
Caused by trinucleotide repeat expansion. Green gene.Created: 23 Apr 2019, 2:42 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Dentatorubro-pallidoluysian atrophy 125370
Details
- Mode of Inheritance
- Other
- Sources
-
- Yorkshire and North East 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
- 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
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 Yorkshire and North East GLH was added to 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.
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Rebecca Foulger: Gene awaiting curator evaluati
Added Tag
Rebecca Foulger (Genomics England curator)Tag nucleotide-repeat-expansion tag was added to gene: ATN1.
Added Tag
Rebecca Foulger (Genomics England curator)Tag currently-ngs-unreportable tag was added to gene: ATN1.
Set Phenotypes
Rebecca Foulger (Genomics England curator)Added phenotypes Dentatorubro-pallidoluysian atrophy 125370 for gene: ATN1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Rebecca Foulger (Genomics England curator)gene: ATN1 was added gene: ATN1 was added to Neurodegenerative disorders - adult 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