Parkinson Disease and Complex Parkinsonism
Gene: SLC41A1

SLC41A1 (solute carrier family 41 member 1)
EnsemblGeneIds (GRCh38): ENSG00000133065
EnsemblGeneIds (GRCh37): ENSG00000133065
OMIM: 610801, Gene2Phenotype
SLC41A1 is in 5 panels

2 reviews

Arianna Tucci (Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square)

Red List (low evidence)

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.

Created: 14 Dec 2016, 5:27 p.m.

Panel version: 0.161

Ellen McDonagh (Genomics England Curator)

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.

Created: 3 Nov 2016, 4:57 p.m.

Panel version: 0.117

Details

Sources

Expert Review Red
Radboud University Medical Center, Nijmegen

Phenotypes

Parkinson disease (Yan (2011) Int J Neurosci 121,632)

OMIM

610801

Clinvar variants

Variants in SLC41A1

Penetrance

Complete

Publications

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

Panels with this gene