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Genetic epilepsy syndromes

STR: ATN1_CAG

Green List (high evidence)

Chromosome: 12
GRCh37 Position: 7045880-7045936
GRCh38 Position: 6936717-6936772
Repeated Sequence: CAG
Normal Number of Repeats: < or = 35
Pathogenic Number of Repeats: = or > 48

ATN1 (atrophin 1)
EnsemblGeneIds (GRCh38): ENSG00000111676
EnsemblGeneIds (GRCh37): ENSG00000111676
OMIM: 607462, Gene2Phenotype
ATN1 is in 13 panels

2 reviews

Rebecca Foulger (Genomics England curator)

Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor. Suggested gene rating: Green. Evidence for inclusion: PMID:7868125. Suggested mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted. Review comments: None.
Created: 6 Aug 2019, 9:16 p.m. | Last Modified: 6 Aug 2019, 9:16 p.m.
Panel Version: 1.191

Arianna Tucci (Genomics England Curator)

Green List (high evidence)

Comment when marking as ready: Added to the panel following the Webex discussion with experts from the GMCs (6/09/2018) about feeding back STR results
Created: 5 Dec 2018, 5:09 p.m.
Sources: Expert Review
Created: 5 Dec 2018, 5:08 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Details

Name
ATN1_CAG
Chromosome
12
GRCh37 Coordinates
7045880-7045936
GRCh38 Coordinates
6936717-6936772
Repeated Sequence
CAG
Normal Number of Repeats: < or =
35
Pathogenic Number of Repeats: = or >
48
Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
Phenotypes
  • Dentatorubro-pallidoluysian atrophy 125370
Tags
STR
OMIM
607462
Clinvar variants
Variants in ATN1
Penetrance
None

History Filter Activity

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to STR: ATN1_CAG.

20 Dec 2018, Gel status: 3

Changed GRCh38, Status Update

Louise Daugherty (Genomics England Curator)

GRCh38 position for ATN1_CAG was changed from 6936717-6936742 to 6936717-6936772. Rating Changed from Green List (high evidence) to Green List (high evidence)

11 Dec 2018, Gel status: 3

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Arianna Tucci: Sources: Expert Review

7 Dec 2018, Gel status: 3

Set Phenotypes

Arianna Tucci (Genomics England Curator)

Phenotypes for STR: ATN1_CAG were changed from to Dentatorubro-pallidoluysian atrophy 125370

5 Dec 2018, Gel status: 3

Added Tag

Louise Daugherty (Genomics England Curator)

Tag STR tag was added to STR: ATN1_CAG.

5 Dec 2018, Gel status: 3

Entity classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

Str: atn1_cag has been classified as Green List (High Evidence).

5 Dec 2018, Gel status: 3

Entity classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

Str: atn1_cag has been classified as Green List (High Evidence).

5 Dec 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance

Arianna Tucci (Genomics England Curator)

STR: ATN1_CAG was added STR: ATN1_CAG was added to Genetic epilepsy syndromes. Sources: Expert Review Mode of inheritance for STR: ATN1_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Review for STR: ATN1_CAG was set to GREEN