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Hereditary neuropathy

STR: ATXN1_CAG

Green List (high evidence)

Chromosome: 6
GRCh37 Position: 16327867-16327953
GRCh38 Position: 16327636-16327722
Repeated Sequence: CAG
Normal Number of Repeats: < or = 35
Pathogenic Number of Repeats: = or > 44

ATXN1 (ataxin 1)
EnsemblGeneIds (GRCh38): ENSG00000124788
EnsemblGeneIds (GRCh37): ENSG00000124788
OMIM: 601556, Gene2Phenotype
ATXN1 is in 13 panels

2 reviews

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Green rating for STR submitted on behalf of James Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group.
Created: 29 Apr 2019, 9:47 a.m.

Arianna Tucci (Genomics England Curator)

Green List (high evidence)

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, 10:51 a.m.
Added to the panel following the Webex discussion with experts from the GMCs (6/09/2018) about feeding back STR results
Sources: Expert Review
Created: 5 Dec 2018, 10:51 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Clinically Relevant

Interruptions in the repeated sequence are reported as part of standard diagnostic practise

Details

Name
ATXN1_CAG
Chromosome
6
GRCh37 Coordinates
16327867-16327953
GRCh38 Coordinates
16327636-16327722
Repeated Sequence
CAG
Normal Number of Repeats: < or =
35
Pathogenic Number of Repeats: = or >
44
Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
Phenotypes
  • Spinocerebellar ataxia 1 164400
Tags
STR
OMIM
601556
Clinvar variants
Variants in ATXN1
Penetrance
None

History Filter Activity

7 Dec 2018, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for STR: ATXN1_CAG were changed from Spinocerebellar ataxia 1 164400 to Spinocerebellar ataxia 1 164400

7 Dec 2018, Gel status: 3

Set Phenotypes

Arianna Tucci (Genomics England Curator)

Phenotypes for STR: ATXN1_CAG were changed from Spinocerebellar ataxia 1 164400 to Spinocerebellar ataxia 1 164400

7 Dec 2018, Gel status: 3

Set Phenotypes

Arianna Tucci (Genomics England Curator)

Phenotypes for STR: ATXN1_CAG were changed from to Spinocerebellar ataxia 1 164400

5 Dec 2018, Gel status: 3

Added Tag

Louise Daugherty (Genomics England Curator)

Tag STR tag was added to STR: ATXN1_CAG.

5 Dec 2018, Gel status: 3

Entity classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

Str: atxn1_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: atxn1_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: ATXN1_CAG was added STR: ATXN1_CAG was added to Hereditary neuropathy. Sources: Expert Review Mode of inheritance for STR: ATXN1_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Review for STR: ATXN1_CAG was set to GREEN STR: ATXN1_CAG was marked as clinically relevant STR: ATXN1_CAG was marked as current diagnostic