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Ataxia - adult onset

STR: SCA1

Green List (high evidence)
Chromosome: 6
GRCh37 Position: 16327918-16327953
GRCh38 Position: 16327687-16327722
Repeated Sequence: CAG
Normal Number of Repeats: < 35
Pathogenic Number of Repeats: = or > 39

ATXN1 (ataxin 1)
EnsemblGeneIds (GRCh38): ENSG00000124788
EnsemblGeneIds (GRCh37): ENSG00000124788
OMIM: 601556, Gene2Phenotype
ATXN1 is in 0 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

NM_000332.3:c.589_591CAG[X]
Toxic protein aggregation is mechanism of disease
Normal: ≤35 CAG repeats or 36-44 CAG repeats with CAT interruptions
Mutable normal (intermediate): 36-38 CAG repeats without CAT interruptions
Full-penetrance: ≥39 CAG repeats without CAT interruptions or ≥46 uninterrupted CAG repeats with CAT interruptions and additional CAGs
Sources: Expert list
Created: 25 Aug 2020, 2:56 a.m. | Last Modified: 25 Aug 2020, 7:10 a.m.
Panel Version: 0.70

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Spinocerebellar ataxia 1 MIM#164400

Publications

Clinically Relevant

Interruptions in the repeated sequence are reported as part of standard diagnostic practise

Created: 25 Aug 2020, 2:56 a.m.
Last Modified: 25 Aug 2020, 7:10 a.m.
Panel version: 0.70

Details

Name
SCA1
Chromosome
6
GRCh37 Coordinates
16327918-16327953
GRCh38 Coordinates
16327687-16327722
Repeated Sequence
CAG
Normal Number of Repeats: <
35
Pathogenic Number of Repeats: = or >
39
Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Spinocerebellar ataxia 1 MIM#164400
Tags
STR
OMIM
601556
Clinvar variants
Variants in ATXN1
Penetrance
None
Publications

History Filter Activity

25 Aug 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Str: sca1 has been classified as Green List (High Evidence).

25 Aug 2020, Gel status: 1

Created, Added New Source, Added Tag, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

STR: SCA1 was added STR: SCA1 was added to Ataxia - adult onset. Sources: Expert list STR tags were added to STR: SCA1. Mode of inheritance for STR: SCA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for STR: SCA1 were set to 29325606; 20301363 Phenotypes for STR: SCA1 were set to Spinocerebellar ataxia 1 MIM#164400 Review for STR: SCA1 was set to GREEN STR: SCA1 was marked as clinically relevant