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Hereditary spastic paraplegia

STR: ATXN7_CAG

Green List (high evidence)
Chromosome: 3
GRCh37 Position: 63898362-63898391
GRCh38 Position: 63912686-63912715
Repeated Sequence: CAG
Normal Number of Repeats: < 28
Pathogenic Number of Repeats: = or > 37

ATXN7 (ataxin 7)
EnsemblGeneIds (GRCh38): ENSG00000163635
EnsemblGeneIds (GRCh37): ENSG00000163635
OMIM: 607640, Gene2Phenotype
ATXN7 is in 0 panels

2 reviews

Eleanor Williams (Genomics England Curator)

STR repeat lengths have been reviewed and confirmed by the NHS Genomic Medicine Service.
Created: 15 Mar 2022, 12:25 p.m. | Last Modified: 15 Mar 2022, 12:25 p.m.
Panel Version: 1.289
Created: 15 Mar 2022, 12:25 p.m.
Last Modified: 15 Mar 2022, 12:25 p.m.
Panel version: 1.289

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, 1:02 p.m.
Created: 5 Dec 2018, 1:02 p.m.

Panel version: 1.89

Details

Name
ATXN7_CAG
Chromosome
3
GRCh37 Coordinates
63898362-63898391
GRCh38 Coordinates
63912686-63912715
Repeated Sequence
CAG
Normal Number of Repeats: <
28
Pathogenic Number of Repeats: = or >
37
Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Spinocerebellar ataxia 7, OMIM:164500
Tags
STR
OMIM
607640
Clinvar variants
Variants in ATXN7
Penetrance
None

History Filter Activity

10 Mar 2022, Gel status: 3

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

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

10 Mar 2022, Gel status: 1

Changed Normal Number of Repeats, Changed Pathogenic Number of Repeats, Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Normal Number of Repeats for ATXN7_CAG was changed from 34 to 28. Pathogenic Number of Repeats for ATXN7_CAG was changed from 36 to 37. Source NHS GMS was added to STR: ATXN7_CAG. Rating Changed from Green List (high evidence) to Red List (low evidence)

5 Nov 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for STR: ATXN7_CAG were changed from Spinocerebellar ataxia 7 164500 to Spinocerebellar ataxia 7, OMIM:164500

7 Dec 2018, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for STR: ATXN7_CAG were changed from Spinocerebellar ataxia 7 164500 to Spinocerebellar ataxia 7 164500

7 Dec 2018, Gel status: 3

Set Phenotypes

Arianna Tucci (Genomics England Curator)

Phenotypes for STR: ATXN7_CAG were changed from to Spinocerebellar ataxia 7 164500

5 Dec 2018, Gel status: 3

Added Tag

Louise Daugherty (Genomics England Curator)

Tag STR tag was added to STR: ATXN7_CAG.

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: 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

Created, Added New Source, Set mode of inheritance

Arianna Tucci (Genomics England Curator)

STR: ATXN7_CAG was added STR: ATXN7_CAG was added to Hereditary spastic paraplegia. Sources: Expert Review Mode of inheritance for STR: ATXN7_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted STR: ATXN7_CAG was marked as current diagnostic