Genes in panel

Adult onset movement disorder

Gene: SLC19A3

Green List (high evidence)

SLC19A3 (solute carrier family 19 member 3)
EnsemblGeneIds (GRCh38): ENSG00000135917
EnsemblGeneIds (GRCh37): ENSG00000135917
OMIM: 606152, Gene2Phenotype
SLC19A3 is in 16 panels

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

Comment on list classification: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019 : The Specialist Test Group all agreed that there is enough evidence to rate this gene Green
Created: 19 Sep 2019, 1:51 p.m. | Last Modified: 19 Sep 2019, 1:51 p.m.
Panel Version: 0.112
Uploaded an updated Review and rating from a file sent by Robyn Labrum (London North GLH) after webex call 26th July : R56 Adult onset dystonia, chorea or related movement disorder Panel - RED genes from LNGLH_30.07.19.xlsx. To be discussed at next GMS Neurology specialist test group webex September 2019
Created: 13 Aug 2019, 11:48 a.m. | Last Modified: 13 Aug 2019, 11:48 a.m.
Panel Version: 0.99
Review and rating submitted by James Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Created: 23 Apr 2019, 1:19 p.m.

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

I don't know

Further follow up review by Robyn Labrum (London North GLH) after webex call 26th July 2019 : confirming new Amber review (from Red) and flagged for further discssion with the GMS Neurology specialist test group: Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2) - variable age of onset birth to adolesence, dystonia may persist after episodes have resolved ?DISCUSS
Created: 13 Aug 2019, 11:38 a.m. | Last Modified: 13 Aug 2019, 11:38 a.m.
Panel Version: 0.98

History Filter Activity

19 Sep 2019, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: slc19a3 has been classified as Green List (High Evidence).

23 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to SLC19A3.

23 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to SLC19A3.

3 Jan 2019, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: SLC19A3 was added gene: SLC19A3 was added to Adult onset movement disorder. Sources: Expert Review Green Mode of inheritance for gene: SLC19A3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC19A3 were set to Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2) 607483