Genes in panel

Hereditary ataxia - adult onset

Gene: ATN1

Red List (low evidence)

ATN1 (atrophin 1)
EnsemblGeneIds (GRCh38): ENSG00000111676
EnsemblGeneIds (GRCh37): ENSG00000111676
OMIM: 607462, Gene2Phenotype
ATN1 is in 14 panels

3 reviews

Arina Puzriakova (Genomics England Curator)

Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanism
Created: 5 Nov 2021, 9:57 a.m. | Last Modified: 5 Nov 2021, 9:57 a.m.
Panel Version: 2.91

Louise Daugherty (Genomics England Curator)

Red List (low evidence)

This gene was uploaded from the curation template sent out to the GLHs for GMS Neurology specialist test group. The GREEN review from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH relates to the STR and not the gene entity (and is indicated in her comments), as there are no SNVs for this gene being associated to the disorder, this gene is rated RED.
Created: 19 Jun 2019, 11:56 a.m.
Review and GREEN rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.
Created: 15 Apr 2019, 10:21 a.m.

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

CAG triplet expansion - no evidence for SNVs
Created: 15 Apr 2019, 10:06 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Dentato-pallidoluysian atrophy

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments

Details

Mode of Inheritance
Other
Sources
  • Expert Review Red
  • NHS GMS
  • Wessex and West Midlands GLH
  • Brain channelopathy v1.46
  • Hereditary ataxia v1.148
Phenotypes
  • Dentatorubral-pallidoluysian atrophy, OMIM:125370
Tags
nucleotide-repeat-expansion currently-ngs-unreportable
OMIM
607462
Clinvar variants
Variants in ATN1
Penetrance
None
Mode of Pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Panels with this gene

History Filter Activity

5 Nov 2021, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: ATN1 were changed from Dentato-pallidoluysian atrophy; Dentatorubro-pallidoluysian atrophy 125370 to Dentatorubral-pallidoluysian atrophy, OMIM:125370

5 Nov 2021, Gel status: 1

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

27 Apr 2019, Gel status: 1

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: atn1 has been classified as Red List (Low Evidence).

27 Apr 2019, Gel status: 3

Set mode of pathogenicity

Louise Daugherty (Genomics England Curator)

Mode of pathogenicity for gene: ATN1 was changed from Other - please provide details in the comments to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

27 Apr 2019, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: atn1 has been classified as Green List (High Evidence).

15 Apr 2019, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Dentato-pallidoluysian atrophy for gene: ATN1

14 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to ATN1.

14 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Wessex and West Midlands GLH was added to ATN1.

9 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Louise Daugherty: Comment on phenotypes: Implica

18 Dec 2018, Gel status: 1

Added Tag

Eleanor Williams (Genomics England Curator)

Tag currently-ngs-unreportable tag was added to gene: ATN1.

18 Dec 2018, Gel status: 1

Added Tag

Eleanor Williams (Genomics England Curator)

Tag nucleotide-repeat-expansion tag was added to gene: ATN1.

15 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 Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Brain channelopathy v1.46,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