Complex Parkinsonism (includes pallido-pyramidal syndromes)

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 8 panels

2 reviews

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.

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Eligibility statement prior genetic testing
  • Expert
Phenotypes
  • (Hexanucleotideexpansion)
  • clinical presentation suggestive of cortico-basal/PSP syndrome
  • complex parkinsonism
OMIM
614260
Clinvar variants
Variants in C9orf72
Penetrance
Complete
Publications
Mode of Pathogenicity
Other - please provide details in the comments
Panels with this gene

History Filter Activity

10 Aug 2016, Gel status: 0

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for C9orf72 were set to (Hexanucleotideexpansion); clinical presentation suggestive of cortico-basal/PSP syndrome; complex parkinsonism

10 Aug 2016, Gel status: 0

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for C9orf72 were set to 25326098

10 Aug 2016, Gel status: 0

Set mode of pathogenicity

Ellen McDonagh (Genomics England Curator)

Mode of pathogenicity for C9orf72 was changed to Other - please provide details in the comments

12 Aug 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

C9orf72 was added to Complex Parkinsonism (includes pallido-pyramidal syndromes)panel. Sources: Eligibility statement prior genetic testing

24 Jul 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

C9orf72 was added to Complex Parkinsonism (includes pallido-pyramidal syndromes)panel. Sources: Expert