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: < 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

1 review

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.

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
Phenotypes
  • Spinocerebellar ataxia 7 164500
Tags
STR
OMIM
607640
Clinvar variants
Variants in ATXN7
Penetrance
None

History Filter Activity

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