Dystonia - complex
STR: FTDALSGRCh37 Position: 27573427-27573544
GRCh38 Position: 27573529-27573546
Repeated Sequence: GGGGCC
Normal Number of Repeats: < 25
Pathogenic Number of Repeats: = or > 60
C9orf72 (chromosome 9 open reading frame 72)
EnsemblGeneIds (GRCh38): ENSG00000147894
EnsemblGeneIds (GRCh37): ENSG00000147894
OMIM: 614260, Gene2Phenotype
C9orf72 is in 0 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
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: 28 Aug 2021, 7:11 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
Details
- Name
- FTDALS
- Chromosome
- 9
- GRCh37 Coordinates
- 27573427-27573544
- GRCh38 Coordinates
- 27573529-27573546
- Repeated Sequence
- GGGGCC
- Normal Number of Repeats: <
- 25
- Pathogenic Number of Repeats: = or >
- 60
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 MIM#105550
- OMIM
- 614260
- Clinvar variants
- Variants in C9orf72
- Penetrance
- None
- Publications
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Str: ftdals has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Str: ftdals has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)STR: FTDALS was added STR: FTDALS was added to Dystonia - complex. 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 26166205; 24363131; 26187722; 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