Motor Neurone Disease
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: 25 Aug 2020, 1:38 a.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
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 Motor Neuron Disease. Sources: Expert list STR tags were added to STR: SBMA. 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 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