SLC19A2

solute carrier family 19 member 2
OMIM: 603941
PanelMode of inheritanceDetails
6 panels
R-numbers: R143
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Thiamine-responsive megaloblastic anemia syndrome, 249270, neonatal diabetes mellitus in thiamine-responsive megaloblastic anaemia (TRMA), permanent neonatal diabetes (PNDM), Thiamine responsive megaloblastic anaemia, neonatal diabetes
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Thiamine-responsive megaloblastic anemia syndrome, 249270, Thiamine-responsive megaloblastic anemia syndrome (Disorders of thiamine metabolism)
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 2.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Thiamine-responsive megaloblastic anemia syndrome, 249270
R-numbers: R63
Signed-off version 1.17
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME, 249270
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 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
249270 Thiamine-responsive megaloblastic anemia syndrome, 249270 Thiamine-Responsive Megaloblastic Anemia syndrome, Thiamine-Responsive Megaloblastic Anemia syndrome, 249270