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Leukodystrophy - adult onset

STR: FTDALS

Green List (high evidence)
Chromosome: 9
GRCh37 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)

Green List (high evidence)

Expansion carriers showed widespread white-matter abnormalities in the brain
Sources: Literature
Created: 1 Apr 2024, 6:36 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
frontotemporal dementia and/or amyotrophic lateral sclerosis 1 MONDO:0007105

Publications

Variants in this STR are reported as part of current diagnostic practice

Clinically Relevant

Interruptions in the repeated sequence are reported as part of standard diagnostic practise

Created: 1 Apr 2024, 6:36 a.m.

Panel version: 0.130

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
  • Literature
Phenotypes
  • frontotemporal dementia and/or amyotrophic lateral sclerosis 1 MONDO:0007105
OMIM
614260
Clinvar variants
Variants in C9orf72
Penetrance
Incomplete
Publications

History Filter Activity

1 Apr 2024, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Str: ftdals has been classified as Green List (High Evidence).

1 Apr 2024, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance

Bryony Thompson (Royal Melbourne Hospital)

STR: FTDALS was added STR: FTDALS was added to Leukodystrophy - adult onset. Sources: Literature Mode of inheritance for STR: FTDALS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for STR: FTDALS were set to 36970046; 36632182 Phenotypes for STR: FTDALS were set to frontotemporal dementia and/or amyotrophic lateral sclerosis 1 MONDO:0007105 Penetrance for STR: FTDALS were set to Incomplete Review for STR: FTDALS was set to GREEN STR: FTDALS was marked as clinically relevant STR: FTDALS was marked as current diagnostic