Genomics England
GMS Panels
Panels
Genes and Entities

SLC19A2

solute carrier family 19 member 2
OMIM: 603941
PanelMode of inheritanceDetails
6 panels
Green
in Likely inborn error of metabolism
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 6.14
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Thiamine-responsive megaloblastic anemia syndrome, 249270, Thiamine-responsive megaloblastic anemia syndrome (Disorders of thiamine metabolism)
Green
in Mitochondrial disorders
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 7.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Thiamine-responsive megaloblastic anemia syndrome, 249270
Green
in Neonatal diabetes
R-numbers: R143
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Thiamine-responsive megaloblastic anemia syndrome, OMIM:249270
Green
in Possible mitochondrial disorder - nuclear genes
R-numbers: R63
Signed-off version 3.105
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME, 249270
Green
in Pyruvate dehydrogenase (PDH) deficiency
R-numbers: R316
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME, 249270
Green
in Rare anaemia
R-numbers: R92
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
249270 Thiamine-responsive megaloblastic anemia syndrome, 249270 Thiamine-Responsive Megaloblastic Anemia syndrome, Thiamine-Responsive Megaloblastic Anemia syndrome, 249270