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  3. ATXN2_CAG
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Ataxia and cerebellar anomalies - narrow panel

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, 11:46 a.m. | Last Modified: 15 Mar 2022, 11:46 a.m.
Panel Version: 2.288
Created: 15 Mar 2022, 11:46 a.m.
Last Modified: 15 Mar 2022, 11:46 a.m.
Panel version: 2.288

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Source PanelApp panels : Hereditary ataxia v1.150
Sources: Expert list
Created: 21 Dec 2018, 3:19 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Spinocerebellar ataxia 2 183090

Created: 21 Dec 2018, 3:19 p.m.

Panel version: 0.16

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
  • Expert Review Green
  • Expert list
Phenotypes
  • Spinocerebellar ataxia 2, 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, Added New Source

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. Source NHS GMS was added to STR: ATXN2_CAG.

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

9 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: atxn2_cag 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: ATXN2_CAG was added STR: ATXN2_CAG was added to Ataxia and cerebellar anomalies - narrow panel. 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