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Neurodegenerative disorders - adult onset

STR: ATXN10_ATTCT

Green List (high 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 16 panels

1 review

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Green rating for STR submitted on behalf of Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Indicated that variants are reported as part of the current diagnostic practice.
Created: 23 Jul 2019, 4:50 p.m. | Last Modified: 23 Jul 2019, 4:50 p.m.
Panel Version: 1.75
Green rating inferred from review comment of the gene by Anthony Dallosso (Bristol Genetics Laboratory) on behalf of South West GLH, needs to be confirmed during the Neurology test Group call July 2019.
Created: 9 Jul 2019, 10:17 a.m. | Last Modified: 9 Jul 2019, 10:17 a.m.
Panel Version: 1.59
Green rating for STR submitted on behalf of James Polke on behalf of London North GLH for GMS Neurology specialist test group.
Created: 24 Apr 2019, 2:33 p.m. | Last Modified: 9 Jul 2019, 10:17 a.m.
Panel Version: 1.59
Source PanelApp panels :Hereditary spastic paraplegia v1.143, Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.46, Hereditary ataxia v1.150
Sources: Expert list
Created: 21 Dec 2018, 10:26 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Spinocerebellar ataxia 10 603516

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

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
  • NHS GMS
  • South West GLH
  • London North GLH
  • Expert Review Green
  • Expert list
Phenotypes
  • Spinocerebellar ataxia 10 603516
Tags
STR
OMIM
611150
Clinvar variants
Variants in ATXN10
Penetrance
None

History Filter Activity

9 Jul 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to STR: ATXN10_ATTCT.

9 Jul 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source South West GLH was added to STR: ATXN10_ATTCT.

9 Jul 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to STR: ATXN10_ATTCT.

25 Jan 2019, Gel status: 3

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Louise Daugherty: Source PanelApp panels :Heredi

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 Phenotypes

Louise Daugherty (Genomics England Curator)

STR: ATXN10_ATTCT was added STR: ATXN10_ATTCT was added to Neurodegenerative disorders - adult onset. 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 Phenotypes for STR: ATXN10_ATTCT were set to Spinocerebellar ataxia 10 603516 Review for STR: ATXN10_ATTCT was set to GREEN