Genes in panel

Neurodegenerative disorders - adult onset

Gene: SLC41A1

Red List (low evidence)

SLC41A1 (solute carrier family 41 member 1)
EnsemblGeneIds (GRCh38): ENSG00000133065
EnsemblGeneIds (GRCh37): ENSG00000133065
OMIM: 610801, Gene2Phenotype
SLC41A1 is in 6 panels

0 reviews

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Parkinson disease (Yan (2011) Int J Neurosci 121,632)
OMIM
610801
Clinvar variants
Variants in SLC41A1
Penetrance
None
Publications
  • 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
  • 27612022 and 26308152 - reduced risk of PD association
  • 21812739 and 20683486 novel heterozygous variants identified in PD patients
Panels with this gene

History Filter Activity

25 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Rebecca Foulger: Gene awaiting curator evaluati

18 Dec 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: SLC41A1 was added gene: SLC41A1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: SLC41A1 was set to Unknown Publications for gene: SLC41A1 were set to 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; 27612022 and 26308152 - reduced risk of PD association; 21812739 and 20683486 novel heterozygous variants identified in PD patients Phenotypes for gene: SLC41A1 were set to Parkinson disease (Yan (2011) Int J Neurosci 121,632)