Hereditary ataxiaGene: NOP56
Comment on mode of pathogenicity: Nucleotide repeat expansion. Tagged 5.12.16 by Alice Gardham
Created: 5 Dec 2016, 9:26 a.m.
Comment on mode of inheritance: Nucleotide repeat expansion. Tagged 1.12.16 by Alice Gardham
Created: 1 Dec 2016, 4:21 p.m.
Comment when marking as ready: Good evidence. Expanded (GGCCTG)n hexanucleotide repeats, not appropriate currently
Created: 11 Jul 2016, 4:41 a.m.
Repeat expansion. NOT APPROPRIATE
Created: 24 Nov 2015, 4:57 p.m.
Mode of pathogenicity
Other - please provide details in the comments
Mode of pathogenicity for NOP56 was changed to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Mode of inheritance for NOP56 was changed to Other - please specifiy in evaluation comments
This gene has been classified as Red List (Low Evidence).
NOP56 was added to Hereditary ataxiapanel. Sources: Radboud University Medical Center, Nijmegen