Parkinson Disease and Complex Parkinsonism
Gene: GIGYF2
Monoallelic mutations originally identified in 4 families with PD, with incomplete penetrance (PMID:18358451). A number of studies failed to replicate this finding (large cohort studies both in familial and sporadic pd in both Caucasian and Japanese populations(PMID: 18923002, 19250854, 19279319, 19429085, 19482505, 20044296, 20685231). 19321232 in a Belgian PD population identified 3 sporadic PD patients carrying two novel mutations, but due the lack of segregation or functional data the authors say the mutations could be benign polymorohism. One study reported (26134514) 2 siblings with one novel variant (p.Arg610Gly). One chinese study (201788319) reports 9 variants in sporadic PD and not in 300 controls. Functional data on zebrafish embryos also do not support a role of GIGYF2 in dopaminergic neurons (20060621). Overall, these results do not support a major role of GIGYF2 in PD.Created: 14 Dec 2016, 5:27 p.m.
Publications
Comment on list classification: Confirmed with Arianna to keep this red.Created: 8 Dec 2016, 3:48 p.m.
Comment on list classification: Susceptibility gene, with refuted reports of pathogenicity and incomplete penetrance (see publications). Should remain red.Created: 3 Nov 2016, 12:41 p.m.
19th Dec 2016: panel revised according to expert review and further curation.
Publications for GIGYF2 were set to 18923002; 19279319; 19250854; 19279319; 19449032;18358451; 18923002; 19250854; 19279319; 19429085; 19482505; 20044296; 20685231; 19321232; 26134514; 201788319; 20060621
This gene has been classified as Red List (Low Evidence).
Phenotypes for GIGYF2 were set to Susceptibility to Parkinson disease 11, 607688;{Parkinson disease 11}
This gene has been classified as Red List (Low Evidence).
Phenotypes for GIGYF2 were set to Susceptibility to Parkinson disease 11, 607688
This gene has been classified as Red List (Low Evidence).
Publications for GIGYF2 were set to 18923002;19279319;19250854; 19279319;19449032
GIGYF2 was added to Parkinson Disease and Complex Parkinsonismpanel. Sources: Radboud University Medical Center, Nijmegen
GIGYF2 was created by ellenmcdonagh