Repeat Disorders
STR: HD
NM_002111.8:c.52_54CAG[X]
Primary mechanism of disease is gain of function
Normal: ≤26 repeats
Intermediate: 27-35 repeats, no risk for proband but expansion possible in the next generation
Pathogenic (reduced penetrance): 36-39 repeats, proband at risk for HD but may not develop symptoms
Pathogenic (full penetrance): ≥40 repeats, development of HD with increased certainty assuming a normal life span
Sources: Expert listCreated: 20 Jun 2021, 12:03 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Huntington disease MIM#143100
Publications
Clinically RelevantInterruptions in the repeated sequence are reported as part of standard diagnostic practise
Tag adult-onset tag was added to STR: HD.
Str: hd has been classified as Green List (High Evidence).
Str: hd has been classified as Green List (High Evidence).
STR: HD was added STR: HD was added to Repeat Disorders. Sources: Expert list Mode of inheritance for STR: HD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for STR: HD were set to 8458085; 20301482; 29325606 Phenotypes for STR: HD were set to Huntington disease MIM#143100 Review for STR: HD was set to GREEN STR: HD was marked as clinically relevant