Hereditary spastic paraplegia - 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)

STR reviewed and discussed at the GMS Neurology Specialist Test Group Webex on 17th May 2019, agreed to leave rating as Green.
Created: 22 May 2019, 12:06 p.m.
Amber rating and review from Chris Buxton (North Bristol NHS Trust), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group. Comment: str. I'm not convinved NGS (illumina) has diagnostic utility to call an expansion > 800ATTCT repeats?
Created: 26 Apr 2019, 1:07 p.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
Sources: Expert list
Created: 26 Apr 2019, 11:35 a.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
  • 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

26 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to STR: ATXN10_ATTCT.

26 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source South West GLH was added to STR: ATXN10_ATTCT.

26 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to STR: ATXN10_ATTCT.

26 Apr 2019, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to STR: ATXN10_ATTCT. Rating Changed from Red List (low evidence) to Green List (high evidence)

26 Apr 2019, 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 - 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