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Hereditary neuropathy

STR: ATXN3_CAG

Green List (high evidence)

Chromosome: 14
GRCh37 Position: 92537355-92537396
GRCh38 Position: 92071011-92071052
Repeated Sequence: CAG
Normal Number of Repeats: < or = 44
Pathogenic Number of Repeats: = or > 60

ATXN3 (ataxin 3)
EnsemblGeneIds (GRCh38): ENSG00000066427
EnsemblGeneIds (GRCh37): ENSG00000066427
OMIM: 607047, Gene2Phenotype
ATXN3 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, 9:48 a.m.

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, 12:36 p.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, 12:35 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Details

Name
ATXN3_CAG
Chromosome
14
GRCh37 Coordinates
92537355-92537396
GRCh38 Coordinates
92071011-92071052
Repeated Sequence
CAG
Normal Number of Repeats: < or =
44
Pathogenic Number of Repeats: = or >
60
Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
Phenotypes
  • Machado-Joseph disease 109150
Tags
STR
OMIM
607047
Clinvar variants
Variants in ATXN3
Penetrance
None

History Filter Activity

7 Dec 2018, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for STR: ATXN3_CAG were changed from Machado-Joseph disease 109150 to Machado-Joseph disease 109150

7 Dec 2018, Gel status: 3

Set Phenotypes

Arianna Tucci (Genomics England Curator)

Phenotypes for STR: ATXN3_CAG were changed from Machado-Joseph disease 109150 to Machado-Joseph disease 109150

7 Dec 2018, Gel status: 3

Set Phenotypes

Arianna Tucci (Genomics England Curator)

Phenotypes for STR: ATXN3_CAG were changed from to Machado-Joseph disease 109150

5 Dec 2018, Gel status: 3

Added Tag

Louise Daugherty (Genomics England Curator)

Tag STR tag was added to STR: ATXN3_CAG.

5 Dec 2018, Gel status: 3

Entity classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

Str: atxn3_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: atxn3_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: atxn3_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: ATXN3_CAG was added STR: ATXN3_CAG was added to Hereditary neuropathy. Sources: Expert Review Mode of inheritance for STR: ATXN3_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted STR: ATXN3_CAG was marked as current diagnostic