Parkinson Disease and Complex Parkinsonism
Gene: SLC41A1
This gene encodes for a Mg transporter and has been sequenced in PD as a candidate gene. Has never been described in PD families.Created: 14 Dec 2016, 5:27 p.m.
Comment on list classification: Not reported with a phenotype in OMIM. There have been case-control studies reporting variants associated with increase risk or protection from PD. One case report of early onset PD, though unclear whether they looked at familial segregation.Created: 3 Nov 2016, 4:57 p.m.
19th Dec 2016: panel revised according to expert review and further curation.
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
Publications for SLC41A1 were set to 27612022 and 26308152 - reduced risk of PD association; 24661466 - A novel heterozygous variant (R244H) reported in the SLC41A1 gene was identified in one early onset PD patient, which not present either in 479 PD patients or 525 normal controls with age onset >50; 21812739 and 20683486 novel heterozygous variants identified in PD patients
SLC41A1 was created by ellenmcdonagh
SLC41A1 was added to Parkinson Disease and Complex Parkinsonismpanel. Sources: Radboud University Medical Center, Nijmegen