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Ataxia - adult onset

STR: SCA3

Green List (high evidence)
Chromosome: 14
GRCh37 Position: 92537355-92537396
GRCh38 Position: 92071011-92071052
Repeated Sequence: CAG
Normal Number of Repeats: < 44
Pathogenic Number of Repeats: = or > 60

ATXN3 (ataxin 3)
EnsemblGeneIds (GRCh38): ENSG00000066427
EnsemblGeneIds (GRCh37): ENSG00000066427
OMIM: 607047, Gene2Phenotype
ATXN3 is in 0 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

NM_004993​.5:c.886_888CAG[X]
Toxic aggregation and mislocalization in neurons is mechanism of disease
Normal: ≤44 repeats, mostly <31 repeats
Intermediate: 45-59 repeats, some intermediate alleles are not associated with classic clinical features of SCA3
Pathogenic (full penetrance): ≥60 repeats
Sources: Expert list
Created: 25 Aug 2020, 8:04 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Machado-Joseph disease MIM#109150; Spinocerebellar ataxia type 3

Publications

Clinically Relevant

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

Created: 25 Aug 2020, 8:04 a.m.

Panel version: 0.74

Details

Name
SCA3
Chromosome
14
GRCh37 Coordinates
92537355-92537396
GRCh38 Coordinates
92071011-92071052
Repeated Sequence
CAG
Normal Number of Repeats: <
44
Pathogenic Number of Repeats: = or >
60
Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Machado-Joseph disease MIM#109150
  • Spinocerebellar ataxia type 3
Tags
STR
OMIM
607047
Clinvar variants
Variants in ATXN3
Penetrance
None
Publications

History Filter Activity

25 Aug 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Str: sca3 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: SCA3 was added STR: SCA3 was added to Ataxia - adult onset. Sources: Expert list STR tags were added to STR: SCA3. Mode of inheritance for STR: SCA3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for STR: SCA3 were set to 20301375; 29325606 Phenotypes for STR: SCA3 were set to Machado-Joseph disease MIM#109150; Spinocerebellar ataxia type 3 Review for STR: SCA3 was set to GREEN STR: SCA3 was marked as clinically relevant