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Adult onset hereditary spastic paraplegia

STR: ATXN2_CAG

Green List (high evidence)
Chromosome: 12
GRCh37 Position: 112036755-112036823
GRCh38 Position: 111598951-111599019
Repeated Sequence: CAG
Normal Number of Repeats: < 32
Pathogenic Number of Repeats: = or > 35

ATXN2 (ataxin 2)
EnsemblGeneIds (GRCh38): ENSG00000204842
EnsemblGeneIds (GRCh37): ENSG00000204842
OMIM: 601517, Gene2Phenotype
ATXN2 is in 0 panels

2 reviews

Ivone Leong (Genomics England Curator)

STR repeat lengths have been reviewed and confirmed by the NHS Genomic Medicine Service.
Created: 15 Mar 2022, 11:47 a.m. | Last Modified: 15 Mar 2022, 11:47 a.m.
Panel Version: 1.95
Created: 15 Mar 2022, 11:47 a.m.
Last Modified: 15 Mar 2022, 11:47 a.m.
Panel version: 1.95

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, 12:13 p.m.
Green 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.
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, 11:45 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Spinocerebellar ataxia 2 183090

Created: 26 Apr 2019, 11:45 a.m.

Panel version: 0.151

Details

Name
ATXN2_CAG
Chromosome
12
GRCh37 Coordinates
112036755-112036823
GRCh38 Coordinates
111598951-111599019
Repeated Sequence
CAG
Normal Number of Repeats: <
32
Pathogenic Number of Repeats: = or >
35
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 2, OMIM:183090
  • {Amyotrophic lateral sclerosis, susceptibility to, 13}, OMIM:183090
Tags
STR
OMIM
601517
Clinvar variants
Variants in ATXN2
Penetrance
None

History Filter Activity

10 Mar 2022, Gel status: 3

Changed Normal Number of Repeats, Changed Pathogenic Number of Repeats

Arina Puzriakova (Genomics England Curator)

Normal Number of Repeats for ATXN2_CAG was changed from 31 to 32. Pathogenic Number of Repeats for ATXN2_CAG was changed from 33 to 35.

5 Nov 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for STR: ATXN2_CAG were changed from Spinocerebellar ataxia 2 183090 to Spinocerebellar ataxia 2, OMIM:183090; {Amyotrophic lateral sclerosis, susceptibility to, 13}, OMIM:183090

26 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to STR: ATXN2_CAG.

26 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source South West GLH was added to STR: ATXN2_CAG.

26 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to STR: ATXN2_CAG.

26 Apr 2019, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to STR: ATXN2_CAG. 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: ATXN2_CAG was added STR: ATXN2_CAG was added to Hereditary spastic paraplegia - adult onset. Sources: Expert list STR tags were added to STR: ATXN2_CAG. Mode of inheritance for STR: ATXN2_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for STR: ATXN2_CAG were set to Spinocerebellar ataxia 2 183090 Review for STR: ATXN2_CAG was set to GREEN