Hereditary spastic paraplegia - childhood onset

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 19 panels

2 reviews

Arianna Tucci (Genomics England Curator)

Onset typically in adulthood, some patients with onset in adolescence (11506407). So far only found in Latin American populations
Created: 25 Feb 2019, 11:48 a.m.

Louise Daugherty (Genomics England Curator)

I don't know

Comment on list classification: STR reviewed and discussed at the GMS Neurology Specialist Test Group Webex on 17th May 2019. Agreed to change the rating from Green to Amber.
Created: 22 May 2019, 11:08 a.m.
Green rating for STR submitted on behalf of James Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group.
Created: 28 Apr 2019, 4:20 p.m.
Source PanelApp panels : Hereditary spastic paraplegia Version 1.141
Sources: Expert list
Created: 21 Dec 2018, 1:46 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Spinocerebellar ataxia 10 603516

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

History Filter Activity

22 May 2019, Gel status: 2

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

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

28 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 Phenotypes

Louise Daugherty (Genomics England Curator)

STR: ATXN10_ATTCT was added STR: ATXN10_ATTCT was added to Hereditary spastic paraplegia - childhood 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