Adult onset leukodystrophy
STR: ATN1

Chromosome: 12
GRCh37 Position: 7045880-7045936
GRCh38 Position: 6936717-6936772
Repeated Sequence: CAG
Normal Number of Repeats: < 36
Pathogenic Number of Repeats: = or > 48

ATN1 (atrophin 1)
EnsemblGeneIds (GRCh38): ENSG00000111676
EnsemblGeneIds (GRCh37): ENSG00000111676
OMIM: 607462, Gene2Phenotype
ATN1 is in 15 panels

1 review

Lucy Jackson (NHS)

Green List (high evidence)

National Inherited White Matter Disorders MDT requests that this STR is added to the R62 panel
Sources: NHS GMS
Created: 16 Jul 2026, 3:30 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Variants in this STR are reported as part of current diagnostic practice

Created: 16 Jul 2026, 3:30 p.m.

Panel version: 7.3

Details

Name

ATN1

Chromosome

GRCh37 Coordinates

7045880-7045936

GRCh38 Coordinates

6936717-6936772

Repeated Sequence

CAG

Normal Number of Repeats: <

Pathogenic Number of Repeats: = or >

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

OMIM

607462

Clinvar variants

Variants in ATN1

Penetrance

None

History Filter Activity

16 Jul 2026, Gel status: 0

Created, Added New Source, Set mode of inheritance

Lucy Jackson (NHS)

STR: ATN1 was added STR: ATN1 was added to Adult onset leukodystrophy. Sources: NHS GMS Mode of inheritance for STR: ATN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted STR: ATN1 was marked as current diagnostic

Adult onset leukodystrophy STR: ATN1