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  2. Likely inborn error of metabolism
  3. SLC19A2
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Likely inborn error of metabolism

Gene: SLC19A2

Green List (high evidence)
SLC19A2 (solute carrier family 19 member 2)
EnsemblGeneIds (GRCh38): ENSG00000117479
EnsemblGeneIds (GRCh37): ENSG00000117479
OMIM: 603941, Gene2Phenotype
SLC19A2 is in 16 panels

3 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

Created: 5 Nov 2017, 2:38 a.m.

Panel version: Imported from Mitochondrial disorders panel version 0

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Both reviewers agree this gene should be promoted from red to green.
Created: 12 Feb 2016, 11:45 a.m.
Created: 12 Feb 2016, 11:45 a.m.

Panel version: Imported from Mitochondrial disorders panel version 0.267

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

Created: 8 Feb 2016, 10:33 a.m.

Panel version: Imported from Mitochondrial disorders panel version 0.37

History Filter Activity

2 Apr 2026, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: SLC19A2 were changed from Thiamine-responsive megaloblastic anemia syndrome, 249270; Thiamine-responsive megaloblastic anemia syndrome (Disorders of thiamine metabolism) to Thiamine-responsive megaloblastic anemia syndrome, OMIM:249270

13 Feb 2019, Gel status: 4

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to SLC19A2. Source London North GLH was added to SLC19A2.

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Ellen McDonagh: Comment on mode of pathogenici

16 Dec 2018, Gel status: 4

Set Phenotypes, Set publications

Ellen McDonagh (Genomics England Curator)

Added phenotypes Thiamine-responsive megaloblastic anemia syndrome, 249270; Thiamine-responsive megaloblastic anemia syndrome (Disorders of thiamine metabolism) for gene: SLC19A2 Publications for gene SLC19A2 were changed from to 27604308

16 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: SLC19A2 was added gene: SLC19A2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SLC19A2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC19A2 were set to Thiamine-responsive megaloblastic anemia syndrome, 249270