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Epileptic encephalopathy

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

1 review

Arianna Tucci (Genomics England Curator)

Comment when marking as ready: Marked as ready following the Webex discussion with GMC experts (6/09/2018) about feeding back STR results
Created: 5 Dec 2018, 10:25 a.m.
Added to the panel following the Webex discussion with GMC experts (6/09/2018) about feeding back STR results
Sources: Expert Review
Created: 5 Dec 2018, 10:24 a.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
Phenotypes
  • Dentatorubro-pallidoluysian atrophy 125370
Tags
STR
OMIM
607462
Clinvar variants
Variants in ATN1
Penetrance
None

History Filter Activity

7 Dec 2018, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for STR: ATN1_CAG were changed from Dentatorubro-pallidoluysian atrophy 12537 to Dentatorubro-pallidoluysian atrophy 125370

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 12537

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 Epileptic encephalopathy. Sources: Expert Review Mode of inheritance for STR: ATN1_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted