Incidentalome
STR: FTDALS
NG_031977.1:g.5321GGGGCC[X]
Repeat expansion affects the protein degradation pathways and may contribute to TDP‐43 accumulation
Normal alleles: ≤25 G4C2 hexanucleotide repeat units generally considered normal
Pathogenic high-penetrance alleles: ≥60 G4C2 hexanucleotide repeat units are considered pathogenic
Note: The minimal size of a G4C2 pathogenic repeat is under debate: some studies consider repeats of >30 G4C2 hexanucleotide repeat units as pathogenic, whereas others use a cutoff of 60 G4C2 hexanucleotide repeat units.
Sources: Expert listCreated: 29 Aug 2021, 3:53 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 MIM#105550
Publications
Clinically RelevantInterruptions in the repeated sequence are reported as part of standard diagnostic practise
Str: ftdals has been classified as Green List (High Evidence).
Str: ftdals has been classified as Green List (High Evidence).
STR: FTDALS was added STR: FTDALS was added to Incidentalome. Sources: Expert list Mode of inheritance for STR: FTDALS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for STR: FTDALS were set to 25577942; 21944779; 21944778 Phenotypes for STR: FTDALS were set to Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 MIM#105550 Review for STR: FTDALS was set to GREEN STR: FTDALS was marked as clinically relevant