Amyotrophic lateral sclerosis/motor neuron disease

STR: ATXN2_CAG

No list

Chromosome: 12
GRCh37 Position: 112036755-112036823
GRCh38 Position: 111598951-111599019
Repeated Sequence: CAG
Normal Number of Repeats: < or = 31
Pathogenic Number of Repeats: = or > 33

ATXN2 (ataxin 2)
EnsemblGeneIds (GRCh38): ENSG00000204842
EnsemblGeneIds (GRCh37): ENSG00000204842
OMIM: 601517, Gene2Phenotype
ATXN2 is in 16 panels

2 reviews

Louise Daugherty (Genomics England Curator)

Comment on list classification: Removed STR from Panel. This STR was not listed on the recent GMC STRs document supplied by Arianna Tucci.
Created: 5 Dec 2018, 5:45 p.m.

Ellen McDonagh (Genomics England Curator)

Green List (high evidence)

Comments from Arianna Tucci: Paternal transmission of expanded alleles more unstable.
Created: 31 May 2018, 2:09 p.m.

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

Details

Name
ATXN2_CAG
Chromosome
12
GRCh37 Coordinates
112036755-112036823
GRCh38 Coordinates
111598951-111599019
Repeated Sequence
CAG
Normal Number of Repeats: < or =
31
Pathogenic Number of Repeats: = or >
33
Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Removed
  • Expert list
Phenotypes
  • Spinocerebellar ataxia 2 183090
Tags
STR curated_removed
OMIM
601517
Clinvar variants
Variants in ATXN2
Penetrance
None

History Filter Activity

1 Mar 2021, Gel status: 0

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag curated_removed tag was added to STR: ATXN2_CAG.

5 Dec 2018, Gel status: 0

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Str: atxn2_cag has been removed from the panel.

31 May 2018, Gel status: 1

Changed GRCh37, Changed GRCh38

Ellen McDonagh (Genomics England Curator)

GRCh37 position for ATXN2_CAG was changed from 111881289-112037480 to 112036755-112036823. Panel: Amyotrophic lateral sclerosis/motor neuron disease GRCh38 position for ATXN2_CAG was changed from 111443485-111599676 to 111598951-111599019. Panel: Amyotrophic lateral sclerosis/motor neuron disease

31 May 2018, Gel status: 1

Added Tag

Ellen McDonagh (Genomics England Curator)

STR was added to STR: ATXN2_CAG. Panel: Amyotrophic lateral sclerosis/motor neuron disease

31 May 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

STR: ATXN2_CAG was added to Amyotrophic lateral sclerosis/motor neuron disease panel. Sources: Expert list

31 May 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

STR: ATXN2_CAG was created by Ellen McDonagh