Structural basal ganglia disorders

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 17 panels

4 reviews

Carl Fratter (Oxford University Hospitals NHS Trust)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Variants in this GENE are reported as part of current diagnostic practice

Manju Kurian (UCL-Institute of Child Health)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Ellen McDonagh (Genomics England Curator)

Comment on mode of inheritance: Confirmed on OMIM and G2P.
Created: 12 Feb 2016, 12:27 p.m.
Comment on list classification: Both reviewers agree this gene should be promoted from red to green. It is a confirmed DD gene for Thiamine metabolism dysfunction syndrome 2.
Created: 12 Feb 2016, 12:26 p.m.

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

History Filter Activity

16 Mar 2017, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

promoted 16/03/2017

7 Sep 2016, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

SLC19A3 was added to Structural basal ganglia disorderspanel. Source: Emory Genetics Laboratory

7 Sep 2016, Gel status: 3

Added New Source

Sarah Leigh (Genomics England Curator)

SLC19A3 was added to Structural basal ganglia disorderspanel. Source: UKGTN

7 Sep 2016, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

SLC19A3 was added to Structural basal ganglia disorderspanel. Source: Radboud University Medical Center, Nijmegen

7 Sep 2016, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

SLC19A3 was added to Structural basal ganglia disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services

7 Sep 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

SLC19A3 was created by sleigh