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Ataxia and cerebellar anomalies - narrow panel

STR: ATXN10_ATTCT

Amber List (moderate evidence)

Chromosome: 22
GRCh37 Position: 46191235-46191304
GRCh38 Position: 45795355-45795424
Repeated Sequence: ATTCT
Normal Number of Repeats: < or = 32
Pathogenic Number of Repeats: = or > 800

ATXN10 (ataxin 10)
EnsemblGeneIds (GRCh38): ENSG00000130638
EnsemblGeneIds (GRCh37): ENSG00000130638
OMIM: 611150, Gene2Phenotype
ATXN10 is in 17 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Comment on list classification: Downgraded from Green to Amber as this STR was not listed on the recent STRs document supplied by Jane Deller (NHS England) on behalf of GLHs for the GMS Neurology Test Group
Created: 8 Oct 2020, 9:11 a.m. | Last Modified: 8 Oct 2020, 9:11 a.m.
Panel Version: 2.16

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Source PanelApp panels : Hereditary ataxia v1.150
Sources: Expert list
Created: 21 Dec 2018, 3:13 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Spinocerebellar ataxia 10 603516

Publications

Details

Name
ATXN10_ATTCT
Chromosome
22
GRCh37 Coordinates
46191235-46191304
GRCh38 Coordinates
45795355-45795424
Repeated Sequence
ATTCT
Normal Number of Repeats: < or =
32
Pathogenic Number of Repeats: = or >
800
Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • Spinocerebellar ataxia 10 603516
Tags
STR for-review
OMIM
611150
Clinvar variants
Variants in ATXN10
Penetrance
None
Publications

History Filter Activity

8 Oct 2020, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Str: atxn10_attct has been classified as Amber List (Moderate Evidence).

8 Oct 2020, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review tag was added to STR: ATXN10_ATTCT.

9 Jan 2019, Gel status: 3

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Louise Daugherty: Source PanelApp panels : Hered

21 Dec 2018, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Str: atxn10_attct has been classified as Green List (High Evidence).

21 Dec 2018, Gel status: 1

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

Louise Daugherty (Genomics England Curator)

STR: ATXN10_ATTCT was added STR: ATXN10_ATTCT was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert list STR tags were added to STR: ATXN10_ATTCT. Mode of inheritance for STR: ATXN10_ATTCT was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for STR: ATXN10_ATTCT were set to 12164725 Phenotypes for STR: ATXN10_ATTCT were set to Spinocerebellar ataxia 10 603516 Review for STR: ATXN10_ATTCT was set to GREEN