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Intellectual disability

STR: ATXN10_ATTCT

No list

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

Louise Daugherty (Genomics England Curator)

Comment on list classification: Removed STR from Panel. This STR was not listed on the recent GMC STRs document supplied by Arianna Tucci.
Created: 5 Dec 2018, 5:22 p.m.

Ellen McDonagh (Genomics England Curator)

Green List (high evidence)

Comments from Arianna Tucci: expanded repeat alleles are mostly unstable with paternal transmission but remarkably stable with maternal transmission (12164725).
Created: 31 May 2018, 3:57 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Spinocerebellar ataxia , 603516

Publications

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
  • Expert Review Removed
  • Expert list
Phenotypes
  • Spinocerebellar ataxia 10 603516
Tags
STR
OMIM
611150
Clinvar variants
Variants in ATXN10
Penetrance
None
Publications

History Filter Activity

7 Dec 2018, Gel status: 0

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for STR: ATXN10_ATTCT were changed from Spinocerebellar ataxia 603516 to Spinocerebellar ataxia 10 603516

7 Dec 2018, Gel status: 0

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for STR: ATXN10_ATTCT were changed from Spinocerebellar ataxia , 603516 to Spinocerebellar ataxia 603516

5 Dec 2018, Gel status: 0

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Str: atxn10_attct has been removed from the panel.

31 May 2018, Gel status: 1

Added Tag

Ellen McDonagh (Genomics England Curator)

STR was added to STR: ATXN10_ATTCT. Panel: Intellectual disability

31 May 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

STR: ATXN10_ATTCT was added to Intellectual disability panel. Sources: Expert list

31 May 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

STR: ATXN10_ATTCT was created by Ellen McDonagh