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Adult onset neurodegenerative disorder
STR: ATXN7_CAG

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

4 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

The rating of this entity has been updated to green following NHS Genomic Medicine Service approval.
Created: 26 Sep 2024, 4:23 p.m. | Last Modified: 26 Sep 2024, 4:23 p.m.

Panel Version: 6.5

ATXN7_CAG expansions have been associated Spinocerebellar ataxia 7 (OMIM:164500) and as definitive Gen2Phen entity for the same condition. At least six families with have been reported carrying ATXN7_CAG expansions, showing segregation with the condition and genetic anticipation in successive generations (PMID: 27632585;9288099).
Created: 24 Jun 2024, 4:58 p.m. | Last Modified: 24 Jun 2024, 4:58 p.m.

Panel Version: 5.6

Created: 24 Jun 2024, 4:58 p.m.
Last Modified: 24 Jun 2024, 4:58 p.m.
Panel version: 6.5

Eleanor Williams (Genomics England Curator)

STR repeat lengths have been reviewed and confirmed by the NHS Genomic Medicine Service.
Created: 15 Mar 2022, 12:33 p.m. | Last Modified: 15 Mar 2022, 12:33 p.m.

Panel Version: 2.267

Created: 15 Mar 2022, 12:33 p.m.
Last Modified: 15 Mar 2022, 12:33 p.m.
Panel version: 2.267

Arina Puzriakova (Genomics England Curator)

Comment on list classification: Downgraded from Green to Amber as this STR was not listed on the recent GMS STRs document supplied by Jane Deller (NHS England) on behalf of GLHs for the GMS Neurology Test Group
Created: 8 Oct 2020, 9:28 a.m. | Last Modified: 8 Oct 2020, 9:28 a.m.

Panel Version: 2.25

Created: 8 Oct 2020, 9:28 a.m.
Last Modified: 8 Oct 2020, 9:28 a.m.
Panel version: 2.25

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Green rating for STR submitted on behalf of Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Indicated that variants are reported as part of the current diagnostic practice.
Created: 23 Jul 2019, 4:52 p.m. | Last Modified: 23 Jul 2019, 4:52 p.m.

Panel Version: 1.75

Green rating inferred from review comment of the gene by Anthony Dallosso (Bristol Genetics Laboratory) on behalf of South West GLH, needs to be confirmed during the Neurology test Group call July 2019.
Created: 9 Jul 2019, 10:20 a.m. | Last Modified: 9 Jul 2019, 10:20 a.m.

Panel Version: 1.59

Source PanelApp panels : Hereditary spastic paraplegia v1.141, Hereditary ataxia v1.148.
Sources: Expert list
Created: 20 Dec 2018, 4:42 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

Created: 20 Dec 2018, 4:42 p.m.

Panel version: 1.75

Details

Name

ATXN7_CAG

Chromosome

GRCh37 Coordinates

63898362-63898391

GRCh38 Coordinates

63912686-63912715

Repeated Sequence

CAG

Normal Number of Repeats: <

Pathogenic Number of Repeats: = or >

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Yorkshire and North East GLH
NHS GMS
South West GLH
London North GLH
Expert list

Phenotypes

Spinocerebellar ataxia 7, OMIM:164500
autosomal dominant cerebellar ataxia type II, MONDO:0016163

Tags

STR

OMIM

607640

Clinvar variants

Variants in ATXN7

Penetrance

None

History Filter Activity

26 Sep 2024, Gel status: 3

Removed Tag, Removed Tag

Sarah Leigh (Genomics England Curator)

Tag Q2_24_promote_green was removed from STR: ATXN7_CAG. Tag Q2_24_expert_review was removed from STR: ATXN7_CAG.

26 Sep 2024, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

24 Jun 2024, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for STR: ATXN7_CAG were changed from Spinocerebellar ataxia 7, OMIM:164500 to Spinocerebellar ataxia 7, OMIM:164500; autosomal dominant cerebellar ataxia type II, MONDO:0016163

24 Jun 2024, Gel status: 2

Removed Tag, Added Tag, Added Tag

Sarah Leigh (Genomics England Curator)

Tag watchlist was removed from STR: ATXN7_CAG. Tag Q2_24_promote_green tag was added to STR: ATXN7_CAG. Tag Q2_24_expert_review tag was added to STR: ATXN7_CAG.

13 Jul 2023, Gel status: 2

Removed Tag

Sarah Leigh (Genomics England Curator)

Tag Q3_23_promote_green was removed from STR: ATXN7_CAG.

29 Jun 2023, Gel status: 2

Added Tag

Sarah Leigh (Genomics England Curator)

Tag Q3_23_promote_green tag was added to STR: ATXN7_CAG.

8 Jun 2022, Gel status: 2

Removed Tag

Eleanor Williams (Genomics England Curator)

Tag for-review was removed from STR: ATXN7_CAG.

10 Mar 2022, Gel status: 2

Changed Normal Number of Repeats, Changed Pathogenic Number of Repeats

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.

5 Nov 2021, Gel status: 2

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

5 Nov 2021, Gel status: 2

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag watchlist tag was added to STR: ATXN7_CAG.

8 Oct 2020, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Str: atxn7_cag has been classified as Amber List (Moderate Evidence).

8 Oct 2020, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review tag was added to STR: ATXN7_CAG.

23 Jul 2019, Gel status: 3