Hereditary ataxia

STR: ATXN7_CAG

Green List (high evidence)

Chromosome: 3
GRCh37 Position: 63898362-63898391
GRCh38 Position: 63912686-63912715
Repeated Sequence: CAG
Normal Number of Repeats: < or = 34
Pathogenic Number of Repeats: = or > 36

ATXN7 (ataxin 7)
EnsemblGeneIds (GRCh38): ENSG00000163635
EnsemblGeneIds (GRCh37): ENSG00000163635
OMIM: 607640, Gene2Phenotype
ATXN7 is in 12 panels

3 reviews

Arianna Tucci (Genomics England Curator)

Comment when marking as ready: Marked as ready following the Webex discussion with experts from the GMCs (6/09/2018) about feeding back STR results
Created: 5 Dec 2018, 12:59 p.m.

Louise Daugherty (Genomics England Curator)

added STR tag
Created: 31 May 2018, 4:05 p.m.

Ellen McDonagh (Genomics England Curator)

Green List (high evidence)

The number of normal repeats was changed from 18 to 34.
Created: 6 Jun 2018, 1:29 p.m.
Comments from Arianna Tucci: Marked anticipation. Anticipation in a family may be so dramatic that a child may be diagnosed with what is thought to be a sporadic neurodegenerative disease years before a parent or grandparent with an ATXN7 CAG repeat expansion becomes symptomatic (15349877).
Created: 31 May 2018, 2:20 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Spinocerebellar ataxia 7 164500

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

Details

Name
ATXN7_CAG
Chromosome
3
GRCh37 Coordinates
63898362-63898391
GRCh38 Coordinates
63912686-63912715
Repeated Sequence
CAG
Normal Number of Repeats: < or =
34
Pathogenic Number of Repeats: = or >
36
Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
Phenotypes
  • Spinocerebellar ataxia 7 164500
Tags
STR
OMIM
607640
Clinvar variants
Variants in ATXN7
Penetrance
None

History Filter Activity

5 Dec 2018, Gel status: 3

Entity classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

Str: atxn7_cag has been classified as Green List (High Evidence).

5 Dec 2018, Gel status: 1

Entity classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

Str: atxn7_cag has been classified as Red List (Low Evidence).

6 Jun 2018, Gel status: 1

Changed Normal Number of Repeats

Ellen McDonagh (Genomics England Curator)

Normal Number of Repeats for ATXN7_CAG was changed from 18 to 34. Panel: Hereditary ataxia

31 May 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

STR: ATXN7_CAG was added to Hereditary ataxia panel. Sources: Expert list

31 May 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

STR: ATXN7_CAG was created by Ellen McDonagh