SLC16A1

solute carrier family 16 member 1
OMIM: 600682
PanelMode of inheritanceDetails
2 panels
R-numbers: R144
Signed-off version 2.3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Hyperinsulinism, Dominant, Erythrocyte lactate transporter defect, 245340, Autosomal dominant exercise-induced hyperinsulinism
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Hyperinsulinemic hypoglycemia, familial, 7, mainly ketosis with borderline reduction in glucose