1. Panels
  2. Brain channelopathy
  3. ATN1

Brain channelopathy

Gene: ATN1

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

2 reviews

Arina Puzriakova (Genomics England Curator)

Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanism
Created: 4 Nov 2021, 4:58 p.m. | Last Modified: 4 Nov 2021, 4:58 p.m.
Panel Version: 1.61
Created: 4 Nov 2021, 4:58 p.m.
Last Modified: 4 Nov 2021, 4:58 p.m.
Panel version: 1.61

Arianna Tucci (Genomics England Curator)

Red List (low evidence)

Comment when marking as ready: Marked as red as currently ngs unreportable
Created: 1 Nov 2017, 12:12 p.m.
Caused by heterozygous repeat expansion
Created: 1 Nov 2017, 12:09 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Dentatorubro-pallidoluysian atrophy 125370

Mode of pathogenicity
Other

Created: 1 Nov 2017, 12:09 p.m.

Panel version: 1.16

History Filter Activity

5 Nov 2021, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

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

4 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

1 Nov 2017, Gel status: 1

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

1 Nov 2017, Gel status: 0

Created

Arianna Tucci (Genomics England Curator)

ATN1 was created by arianna

1 Nov 2017, Gel status: 0

Added New Source

Arianna Tucci (Genomics England Curator)

ATN1 was added to Brain channelopathypanel. Sources: Other