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Adult onset leukodystrophy

STR: ATN1_CAG

No list
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 0 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_CAG
Chromosome
12
GRCh37 Coordinates
7045880-7045936
GRCh38 Coordinates
6936717-6936772
Repeated Sequence
CAG
Normal Number of Repeats: <
36
Pathogenic Number of Repeats: = or >
48
Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
Tags
STR
OMIM
607462
Clinvar variants
Variants in ATN1
Penetrance
None

History Filter Activity

21 Jul 2026, Gel status: 0

Changed STR Name, Removed Source, Added New Source, Added Tag

Eleanor Williams (Genomics England Curator)

ATN1 was changed to ATN1_CAG Source NHS GMS was removed from STR: ATN1_CAG. Source Literature was added to STR: ATN1_CAG. Tag STR was added to STR: ATN1_CAG.

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