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Adult onset movement disorder

STR: ATXN3_CAG

Amber List (moderate 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

Arina Puzriakova (Genomics England Curator)

Comment on list classification: This STR has been temporarily downgraded from Green to Amber, and will be repromoted when this clinical indication moves to WGS.
Created: 6 Oct 2020, 10:30 a.m. | Last Modified: 6 Oct 2020, 10:30 a.m.
Panel Version: 1.8

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this STR Green
Created: 5 Aug 2019, 3:16 p.m. | Last Modified: 5 Aug 2019, 3:16 p.m.
Panel Version: 0.93
STR rating submitted by James Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group. Comment : STR suggested by Huw and Raquel.
Created: 23 Apr 2019, 1:31 p.m.
Early onset dystonia v1.76, Parkinson Disease and Complex Parkinsonism v1.64
Sources: Expert list
Created: 11 Jan 2019, 3:51 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Machado-Joseph disease 109150

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
  • Expert Review Amber
Phenotypes
  • Machado-Joseph disease 109150
Tags
STR for-review
OMIM
607047
Clinvar variants
Variants in ATXN3
Penetrance
None

History Filter Activity

8 Oct 2020, Gel status: 2

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review tag was added to STR: ATXN3_CAG.

6 Oct 2020, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Str: atxn3_cag has been classified as Amber List (Moderate Evidence).

23 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to STR: ATXN3_CAG.

23 Apr 2019, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to STR: ATXN3_CAG. Rating Changed from Green List (high evidence) to Green List (high evidence)

11 Jan 2019, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Str: atxn3_cag has been classified as Green List (High Evidence).

11 Jan 2019, Gel status: 1

Created, Added New Source, Added Tag, Set mode of inheritance, Set Phenotypes

Louise Daugherty (Genomics England Curator)

STR: ATXN3_CAG was added STR: ATXN3_CAG was added to Adult onset movement disorder. Sources: Expert list STR tags were added to STR: ATXN3_CAG. Mode of inheritance for STR: ATXN3_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for STR: ATXN3_CAG were set to Machado-Joseph disease 109150 Review for STR: ATXN3_CAG was set to GREEN