Early-onset Dementia
STR: HDL2
NM_001271604.2:c.431CTG[X] or NM_020655.4:c.382+760CTG[X]
In an alternatively spliced exon, the repeat can be transcribed in both directions, leading to CUG (more common) or CAG (less common) repeat-containing transcripts. While a dominant RNA toxic effect may occur, the repeat expansion also reduces levels of the Junctophilin-3 protein
Normal: ≤28 repeats
Questionable significance: 29-39 repeats, mutable normal or reduced penetrance included
Full penetrance: ≥40 repeats
Sources: Expert listCreated: 27 Aug 2020, 6:08 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Huntington disease-like 2 MIM#606438
Publications
Clinically RelevantInterruptions in the repeated sequence are reported as part of standard diagnostic practise
Str: hdl2 has been classified as Green List (High Evidence).
STR: HDL2 was added STR: HDL2 was added to Early-onset Dementia. Sources: Expert list STR tags were added to STR: HDL2. Mode of inheritance for STR: HDL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for STR: HDL2 were set to 20301701 Phenotypes for STR: HDL2 were set to Huntington disease-like 2 MIM#606438 Review for STR: HDL2 was set to GREEN STR: HDL2 was marked as clinically relevant