Parkinson Disease and Complex Parkinsonism
Gene: EPHB4Comment on list classification: Error with tool trying to permanently delete this record (was C9ORF72) as C9orf72 already on panel (correct)Created: 10 Aug 2017, 8:25 a.m.
Comment on list classification: This is under "C9orf72". This entry needs to be deleted.Created: 15 Dec 2016, 9:32 a.m.
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: 14 Dec 2016, 5:27 p.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
Tag curated_removed tag was added to gene: EPHB4.
This gene has been removed from the panel.
This gene has been classified as Red List (Low Evidence).
This gene has been removed from the panel.
C9ORF72* was changed to EPHB4
This gene has been classified as Red List (Low Evidence).
19th Dec 2016: panel revised according to expert review and further curation.
This gene has been removed from the panel.
C9ORF72* was created by arianna.tucci
C9ORF72* was added to Parkinson Disease and Complex Parkinsonismpanel. Sources: