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Adult onset movement disorder

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

1 review

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, 3:15 p.m. | Last Modified: 5 Aug 2019, 3:15 p.m.
Panel Version: 0.92
Source PanelApp panels : Parkinson Disease and Complex Parkinsonism v1.64
Sources: Expert list
Created: 11 Jan 2019, 3:38 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Spinocerebellar ataxia 1 164400

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
  • NHS GMS
  • Expert Review Green
  • Expert list
Phenotypes
  • Spinocerebellar ataxia 1 164400
Tags
STR
OMIM
601556
Clinvar variants
Variants in ATXN1
Penetrance
None

History Filter Activity

5 Aug 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to STR: ATXN1_CAG.

11 Jan 2019, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Str: atxn1_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: ATXN1_CAG was added STR: ATXN1_CAG was added to Adult onset movement disorder. Sources: Expert list STR tags were added to STR: ATXN1_CAG. Mode of inheritance for STR: ATXN1_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for STR: ATXN1_CAG were set to Spinocerebellar ataxia 1 164400 Review for STR: ATXN1_CAG was set to GREEN