Parkinson Disease and Complex Parkinsonism
Gene: C9orf72Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanismCreated: 8 Nov 2021, 11:15 a.m. | Last Modified: 8 Nov 2021, 11:15 a.m.
Panel Version: 1.79
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 geneCreated: 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
Multiple hexanucleotide repeats reported clinically, which will not be detected using short-read NGS technology.Created: 10 Aug 2016, 8:35 a.m.
c9orf72 is reported in complex parkinsonism but it is unclear if mutations in this gene are a cause of sporadic parkinsons diseaseCreated: 29 Jun 2016, 7:18 p.m.
Phenotypes
complex parkinsonism
Publications
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
Mode of inheritance for gene: C9orf72 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to Other
Tag currently-ngs-unreportable tag was added to gene: C9orf72.
19th Dec 2016: panel revised according to expert review and further curation.
Publications for C9orf72 were set to 25326098;http://www.ncbi.nlm.nih.gov/pubmed/25326098
Mode of pathogenicity for C9orf72 was changed to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
This gene has been classified as Red List (Low Evidence).
C9orf72 was added to Parkinson Disease and Complex Parkinsonismpanel. Sources: Expert,Eligibility statement prior genetic testing
C9orf72 was created by ellenmcdonagh