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Parkinson Disease and Complex Parkinsonism
Gene: C9orf72

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

4 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, 11:15 a.m. | Last Modified: 8 Nov 2021, 11:15 a.m.

Panel Version: 1.79

Created: 8 Nov 2021, 11:15 a.m.
Last Modified: 8 Nov 2021, 11:15 a.m.
Panel version: 1.79

Arianna Tucci (Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square)

Red List (low evidence)

Monoallelic expanded hexanucleotide repeat (GGGGCC) located between the noncoding exons 1a and 1b of the C9ORF72 gene cause autosomal dominant frontotemporal dementia and/or amyotrophic lateral sclerosis. The maximum size of the repeat in healthy controls is 23 units, whereas it was expanded to 700 to 1,600 (DeJesus-Hernandez et al., 2011) or 250 repeats (Renton et al., 2011) in patients. Loss-of-function and missense variants are not relevant in this gene
Created: 15 Dec 2016, 9:29 a.m.

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments

Created: 15 Dec 2016, 9:29 a.m.

Panel version: 0.208

Ellen McDonagh (Genomics England Curator)

Multiple hexanucleotide repeats reported clinically, which will not be detected using short-read NGS technology.
Created: 10 Aug 2016, 8:35 a.m.

Created: 10 Aug 2016, 8:35 a.m.

Panel version: Imported from "Complex Parkinsonism (includes pallido-pyramidal syndromes)" panel version 0.50

alisdair mcneill (Sheffield childrens hospital)

Green List (high evidence)

c9orf72 is reported in complex parkinsonism but it is unclear if mutations in this gene are a cause of sporadic parkinsons disease
Created: 29 Jun 2016, 7:18 p.m.

Phenotypes
complex parkinsonism

Publications

http://www.ncbi.nlm.nih.gov/pubmed/25326098

Created: 29 Jun 2016, 7:18 p.m.

Panel version: Imported from "Complex Parkinsonism (includes pallido-pyramidal syndromes)" panel version 0.47

Details

Mode of Inheritance

Other

Sources

Expert Review Red
Eligibility statement prior genetic testing
Expert

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

Complete

Publications

25326098
http://www.ncbi.nlm.nih.gov/pubmed/25326098

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 Phenotypes

Arina Puzriakova (Genomics England Curator)

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

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

Added Tag

Arina Puzriakova (Genomics England Curator)

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

19 Dec 2016, Gel status: 1