Complex Parkinsonism (includes pallido-pyramidal syndromes)
Gene: C9orf72

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

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

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: 0.47

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

25326098

Mode of Pathogenicity

Other - please provide details in the comments

Panels with this gene