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  2. Adult onset dystonia, chorea or related movement disorder
  3. C9orf72_GGGGCC
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Adult onset dystonia, chorea or related movement disorder

STR: C9orf72_GGGGCC

Green List (high evidence)
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

2 reviews

Eleanor Williams (Genomics England Curator)

STR repeat lengths have been reviewed and confirmed by the NHS Genomic Medicine Service.
Created: 15 Mar 2022, 12:33 p.m. | Last Modified: 15 Mar 2022, 12:33 p.m.
Panel Version: 1.166
Created: 15 Mar 2022, 12:33 p.m.
Last Modified: 15 Mar 2022, 12:33 p.m.
Panel version: 1.166

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this STR Green
Created: 5 Aug 2019, 3:17 p.m. | Last Modified: 5 Aug 2019, 3:17 p.m.
Panel Version: 0.93
STR rating submitted by James Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group. Comment : STR suggested by Huw and Raquel.
Created: 23 Apr 2019, 1:32 p.m.
Source PanelApp panels : Parkinson Disease and Complex Parkinsonism v1.6
Sources: Expert list
Created: 11 Jan 2019, 1:38 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 105550

Created: 11 Jan 2019, 1:38 p.m.

Panel version: 0.93

Details

Name
C9orf72_GGGGCC
Chromosome
9
GRCh37 Coordinates
27573527-27573544
GRCh38 Coordinates
27573529-27573546
Repeated Sequence
GGGGCC
Normal Number of Repeats: <
24
Pathogenic Number of Repeats: = or >
200
Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • London North GLH
  • Expert Review Green
  • 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

Changed Normal Number of Repeats, Changed Pathogenic Number of Repeats

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.

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 OMIM:105550; frontotemporal dementia and/or amyotrophic lateral sclerosis 1 MONDO:0007105 to Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, OMIM:105550

18 May 2021, Gel status: 3

Set Phenotypes

Sarah Leigh (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; frontotemporal dementia and/or amyotrophic lateral sclerosis 1 MONDO:0007105

23 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to STR: C9orf72_GGGGCC.

23 Apr 2019, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to STR: C9orf72_GGGGCC. Rating Changed from Green List (high evidence) to Green List (high evidence)

11 Jan 2019, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

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

11 Jan 2019, Gel status: 1

Created, Added New Source, Added Tag, Set mode of inheritance, Set Phenotypes

Louise Daugherty (Genomics England Curator)

STR: C9orf72_GGGGCC was added STR: C9orf72_GGGGCC was added to Adult onset movement disorder. Sources: Expert list STR tags were added to STR: C9orf72_GGGGCC. Mode of inheritance for STR: C9orf72_GGGGCC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for STR: C9orf72_GGGGCC were set to Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 105550 Review for STR: C9orf72_GGGGCC was set to GREEN