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: < or = 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 8 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

Details

Name
FTDALS
Chromosome
9
GRCh37 Coordinates
27573427-27573544
GRCh38 Coordinates
27573529-27573546
Repeated Sequence
GGGGCC
Normal Number of Repeats: < or =
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