Early onset dementia (encompassing fronto-temporal dementia and prion disease)

STR: C9orf72_GGGGCC

Green List (high evidence)

Chromosome: 9
GRCh37 Position: 27573527-27573544
GRCh38 Position: 27573529-27573546
Repeated Sequence: GGGGCC
Normal Number of Repeats: < or = 24
Pathogenic Number of Repeats: = or > 200

C9orf72 (chromosome 9 open reading frame 72)
EnsemblGeneIds (GRCh38): ENSG00000147894
EnsemblGeneIds (GRCh37): ENSG00000147894
OMIM: 614260, Gene2Phenotype
C9orf72 is in 8 panels

3 reviews

Eleanor Williams (Genomics England Curator)

STR repeat lengths have been reviewed and confirmed by the NHS Genomic Medicine Service.
Created: 15 Mar 2022, 12:40 p.m. | Last Modified: 15 Mar 2022, 12:40 p.m.
Panel Version: 1.76

Arianna Tucci (Genomics England Curator)

Comment on list classification: marked as green as expansions can cause progressive intellectual deterioration
Created: 5 Jun 2018, 3:37 p.m.

Ellen McDonagh (Genomics England Curator)

Green List (high evidence)

Normal Number of Repeats for C9orf72_GGGGCC was changed from 25 to 30.
Created: 6 Jun 2018, 2:14 p.m.
Genomic coordinates have been changed to that for the STR in the reference genome.
Created: 6 Jun 2018, 11:53 a.m.
Please note: The current genomic coordinates provided are for the C9orf72 gene and not for the STR region. These will be replaced once the location is confirmed.
Created: 31 May 2018, 1:03 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 105550

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

Details

Name
C9orf72_GGGGCC
Chromosome
9
GRCh37 Coordinates
27573527-27573544
GRCh38 Coordinates
27573529-27573546
Repeated Sequence
GGGGCC
Normal Number of Repeats: < or =
24
Pathogenic Number of Repeats: = or >
200
Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
  • Expert list
Phenotypes
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, OMIM:105550
Tags
STR
OMIM
614260
Clinvar variants
Variants in C9orf72
Penetrance
None

History Filter Activity

10 Mar 2022, Gel status: 3

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Str: c9orf72_ggggcc has been classified as Green List (High Evidence).

10 Mar 2022, Gel status: 1

Changed Normal Number of Repeats, Changed Pathogenic Number of Repeats, Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Normal Number of Repeats for C9orf72_GGGGCC was changed from 30 to 24. Pathogenic Number of Repeats for C9orf72_GGGGCC was changed from 30 to 200. Source NHS GMS was added to STR: C9orf72_GGGGCC. Rating Changed from Green List (high evidence) to Red List (low evidence)

8 Nov 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for STR: C9orf72_GGGGCC were changed from Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 105550 to Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, OMIM:105550

5 Dec 2018, Gel status: 4

Changed Pathogenic Number of Repeats

Arianna Tucci (Genomics England Curator)

Pathogenic Number of Repeats for C9orf72_GGGGCC was changed from 60 to 30.

6 Jun 2018, Gel status: 4

Changed Normal Number of Repeats

Ellen McDonagh (Genomics England Curator)

Normal Number of Repeats for C9orf72_GGGGCC was changed from 25 to 30. Panel: Early onset dementia (encompassing fronto-temporal dementia and prion disease)

6 Jun 2018, Gel status: 4

Changed GRCh37, Changed GRCh38

Ellen McDonagh (Genomics England Curator)

GRCh37 position for C9orf72_GGGGCC was changed from 27546543-27573864 to 27573527-27573544. Panel: Early onset dementia (encompassing fronto-temporal dementia and prion disease) GRCh38 position for C9orf72_GGGGCC was changed from 27546545-27573866 to 27573529-27573546. Panel: Early onset dementia (encompassing fronto-temporal dementia and prion disease)

5 Jun 2018, Gel status: 3

Entity classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

Str: c9orf72_ggggcc has been classified as Green List (High Evidence).

31 May 2018, Gel status: 1

Added Tag

Ellen McDonagh (Genomics England Curator)

STR was added to STR: C9orf72_GGGGCC. Panel: Early onset dementia (encompassing fronto-temporal dementia and prion disease)

31 May 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

STR: C9orf72_GGGGCC was added to Early onset dementia (encompassing fronto-temporal dementia and prion disease) panel. Sources: Expert list

31 May 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

STR: C9orf72_GGGGCC was created by Ellen McDonagh