Repeat Disorders
STR: SCA17
NM_003194.4:c.172_174[X]
Mechanism of disease expected to be gain of function
Normal: ≤ 40 CAG/CAA repeats
Reduced-penetrance: 41-48 CAG/CAA repeats, individual may or may not develop symptoms.
Full-penetrance: ≥49 CAG/CAA repeats
Sources: Expert listCreated: 20 Jun 2021, 1:48 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Spinocerebellar ataxia 17 MIM#607136
Publications
Clinically RelevantInterruptions in the repeated sequence are reported as part of standard diagnostic practise
Tag adult-onset tag was added to STR: SCA17. Tag paediatric-onset tag was added to STR: SCA17.
Str: sca17 has been classified as Green List (High Evidence).
Str: sca17 has been classified as Green List (High Evidence).
STR: SCA17 was added STR: SCA17 was added to Repeat Disorders. Sources: Expert list Mode of inheritance for STR: SCA17 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for STR: SCA17 were set to 10484774; 20301611; 29325606 Phenotypes for STR: SCA17 were set to Spinocerebellar ataxia 17 MIM#607136 Review for STR: SCA17 was set to GREEN STR: SCA17 was marked as clinically relevant