Genomics England
GMS Panels
Panels
Genes and Entities

SLC16A1

solute carrier family 16 member 1
OMIM: 600682
PanelMode of inheritanceDetails
2 panels
Green
in Congenital hyperinsulinism
R-numbers: R144
Signed-off version 3.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Hyperinsulinemic hypoglycemia, familial, 7, OMIM:610021
Green
in Likely inborn error of metabolism - targeted testing not possible
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 4.78
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Erythrocyte lactate transporter defect, OMIM:245340, Hyperinsulinemic hypoglycemia, familial, 7, OMIM:610021, Monocarboxylate transporter 1 deficiency, OMIM:616095