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  2. Adult onset dystonia, chorea or related movement disorder
  3. C9orf72
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Adult onset dystonia, chorea or related movement disorder

Gene: C9orf72

Red List (low evidence)
C9orf72 (chromosome 9 open reading frame 72)
EnsemblGeneIds (GRCh38): ENSG00000147894
EnsemblGeneIds (GRCh37): ENSG00000147894
OMIM: 614260, Gene2Phenotype
C9orf72 is in 7 panels

3 reviews

Arina Puzriakova (Genomics England Curator)

Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanism
Created: 8 Nov 2021, 11:14 a.m. | Last Modified: 8 Nov 2021, 11:14 a.m.
Panel Version: 1.136
Created: 8 Nov 2021, 11:14 a.m.
Last Modified: 8 Nov 2021, 11:14 a.m.
Panel version: 1.136

Louise Daugherty (Genomics England Curator)

Red List (low evidence)

This gene was uploaded from the curation template sent out to the GLHs for GMS Neurology specialist test group as it is a RED gene on the Parkinson Disease and Complex Parkinsonism panel. It relates to the STR C9orf72_GGGGCC (rated GREEN) and not the gene entity, as there are no SNVs for this gene being associated to the disorder, so this gene has been rated as RED
Created: 19 Jun 2019, 3:48 p.m.
Review and rating from Emily Jones (North Bristol NHS Trust) on behalf of South West GLH for GMS Neurology specialist test group.
Created: 23 Apr 2019, 12:18 p.m.
Created: 23 Apr 2019, 12:18 p.m.

Panel version: 0.87

Emily Jones (North Bristol NHS Trust)

Red List (low evidence)

Hexanucleotide repeat expansion
Created: 23 Apr 2019, 12:14 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
(Hexanucleotideexpansion); complex parkinsonism; clinical presentation suggestive of cortico-basal/PSP syndrome

Publications

Mode of pathogenicity
Other - please provide details in the comments

Created: 23 Apr 2019, 12:14 p.m.

Panel version: 0.49

Details

Mode of Inheritance
Other
Sources
  • NHS GMS
  • South West GLH
  • Expert Review Red
Phenotypes
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, OMIM:105550
Tags
nucleotide-repeat-expansion currently-ngs-unreportable
OMIM
614260
Clinvar variants
Variants in C9orf72
Penetrance
None
Publications
Mode of Pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Panels with this gene

History Filter Activity

8 Nov 2021, Gel status: 1

Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

Mode of inheritance for gene: C9orf72 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to Other

8 Nov 2021, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: C9orf72 were changed from complex parkinsonism; (Hexanucleotideexpansion); clinical presentation suggestive of cortico-basal/PSP syndrome to Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, OMIM:105550

8 Nov 2021, Gel status: 1

Added Tag, Added Tag

Arina Puzriakova (Genomics England Curator)

Tag nucleotide-repeat-expansion tag was added to gene: C9orf72. Tag currently-ngs-unreportable tag was added to gene: C9orf72.

23 Apr 2019, Gel status: 1

Set Phenotypes, Set publications

Louise Daugherty (Genomics England Curator)

Added phenotypes complex parkinsonism; (Hexanucleotideexpansion); clinical presentation suggestive of cortico-basal/PSP syndrome for gene: C9orf72 Publications for gene C9orf72 were changed from http://www.ncbi.nlm.nih.gov/pubmed/25326098; 25326098 to 25326098

23 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to C9orf72.

23 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source South West GLH was added to C9orf72.

3 Jan 2019, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: C9orf72 was added gene: C9orf72 was added to Adult onset movement disorder. Sources: Expert Review Red Mode of inheritance for gene: C9orf72 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: C9orf72 were set to http://www.ncbi.nlm.nih.gov/pubmed/25326098; 25326098 Phenotypes for gene: C9orf72 were set to (Hexanucleotideexpansion); complex parkinsonism; clinical presentation suggestive of cortico-basal/PSP syndrome Mode of pathogenicity for gene: C9orf72 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments