Genes in panel

Adult onset movement disorder

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 4 panels

2 reviews

Louise Daugherty (Genomics England Curator)

Red List (low evidence)

This panel was initially created as a merge of genomic entities from the following Rare Disease 100K panels - Early onset dystonia (v1.76, code 192) - Parkinson Disease and Complex Parkinsonism (v1.64, code 39) - Brain channelopathy (v1.48, code 90) - Structural basal ganglia disorders (v1.10, code 180). This gene was RED and external expert review from South West GLH for GMS Neurology specialist test group for R56 agrees this gene should remain RED
Created: 19 Jun 2019, 4:47 p.m.
Review and rating from Emily Jones (North Bristol NHS Trust) on behalf of South West GLH for GMS Neurology specialist test group.
Created: 23 Apr 2019, 12:18 p.m.

Emily Jones (North Bristol NHS Trust)

Red List (low evidence)

See notes on Parkinson disease and complex parkinsonism panel
Created: 23 Apr 2019, 12:14 p.m.

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

Publications

Details

Sources
  • NHS GMS
  • South West GLH
  • Expert Review Red
Phenotypes
  • Parkinson disease (Yan (2011) Int J Neurosci 121,632)
OMIM
610801
Clinvar variants
Variants in SLC41A1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

23 Apr 2019, Gel status: 1

Set Phenotypes, Set publications

Louise Daugherty (Genomics England Curator)

Added phenotypes Parkinson disease (Yan (2011) Int J Neurosci 121,632) for gene: SLC41A1 Publications for gene SLC41A1 were changed from 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 to 24661466; 26308152; 21812739; 20683486; 27612022

23 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to SLC41A1.

23 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source South West GLH was added to SLC41A1.

3 Jan 2019, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: SLC41A1 was added gene: SLC41A1 was added to Adult onset movement disorder. Sources: Expert Review Red Mode of inheritance for gene: SLC41A1 was set to 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)