Repeat Disorders
STR: SBMA
NM_000044.4:c.172_174CAG[X]
Toxic gain of function mechanism of disease
Normal: ≤34 repeats
Unknown: 35 repeats, consideration of the affected individual's clinical presentation and reconciliation with repeat sizes in family members
Reduced-penetrance: 36-37 repeats, interpreted within the context of family history, clinical presentation, genotype-phenotype correlations in other family members.
Full-penetrance: ≥38 repeats
Sources: Expert listCreated: 19 Jun 2021, 11:48 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Spinal and bulbar muscular atrophy of Kennedy MIM#313200
Publications
Clinically RelevantInterruptions in the repeated sequence are reported as part of standard diagnostic practise
Tag adult-onset tag was added to STR: SBMA.
Str: sbma has been classified as Green List (High Evidence).
Str: sbma has been classified as Green List (High Evidence).
STR: SBMA was added STR: SBMA was added to Repeat Disorders. Sources: Expert list Mode of inheritance for STR: SBMA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for STR: SBMA were set to 2062380; 20301508; 29325606 Phenotypes for STR: SBMA were set to Spinal and bulbar muscular atrophy of Kennedy MIM#313200 Review for STR: SBMA was set to GREEN STR: SBMA was marked as clinically relevant