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Parkinson Disease and Complex Parkinsonism
STR: C9orf72_GGGGCC

Chromosome: 9
GRCh37 Position: 27573527-27573544
GRCh38 Position: 27573529-27573546
Repeated Sequence: GGGGCC
Normal Number of Repeats: < 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 0 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, 12:41 p.m. | Last Modified: 15 Mar 2022, 12:41 p.m.

Panel Version: 1.105

Created: 15 Mar 2022, 12:41 p.m.
Last Modified: 15 Mar 2022, 12:41 p.m.
Panel version: 1.105

Arianna Tucci (Genomics England Curator)

Comment when marking as ready: Marked as ready following the Webex discussion with experts from the GMCs (6/09/2018) about feeding back STR results
Created: 4 Dec 2018, 2:22 p.m.

Created: 4 Dec 2018, 2:22 p.m.

Panel version: 1.46

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, 11:48 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: 1 Jun 2018, 8:44 a.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

Created: 1 Jun 2018, 8:44 a.m.

Panel version: 1.40

Details

Name

C9orf72_GGGGCC

Chromosome

GRCh37 Coordinates

27573527-27573544

GRCh38 Coordinates

27573529-27573546

Repeated Sequence

GGGGCC

Normal Number of Repeats: <

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: 3

Changed Pathogenic Number of Repeats, Status Update

Arianna Tucci (Genomics England Curator)

Pathogenic Number of Repeats for C9orf72_GGGGCC was changed from 60 to 30. Rating Changed from Green List (high evidence) to Green List (high evidence)

4 Dec 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).

4 Dec 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).

6 Jun 2018, Gel status: 1