Ketotic hypoglycaemia
Gene: SLC16A1Comment on phenotypes: Previous phenotype entry: mainly ketosis with borderline reduction in glucose; Hyperinsulinemic hypoglycemia, familial, 7Created: 19 Apr 2022, 3:20 p.m. | Last Modified: 19 Apr 2022, 3:38 p.m.
Panel Version: 1.6
Mode of inheritance
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
Comment on list classification: Gene added by reviewer and rated as green for inclusion on this panel. It is a green gene on the version 1 Hyperinsulinism gene panel.Created: 8 Jun 2016, 12:11 p.m.
Comment on mode of inheritance: Biallelic suggested by reviewer, monoallelic sourced from OMIM. PMID: 26608392 also suggests bi and monoallelic variants can cause monocarboxylate transporter 1 deficiency.Created: 8 Jun 2016, 12:03 p.m.
Comment on list classification: Gene added by Alexander Broomfield (Central Manchester Foundation Trust) rated green.Created: 27 Apr 2016, 8:01 a.m.
Phenotypes for gene: SLC16A1 were changed from mainly ketosis with borderline reduction in glucose; Hyperinsulinemic hypoglycemia, familial, 7 to Erythrocyte lactate transporter defect, OMIM:245340; Hyperinsulinemic hypoglycemia, familial, 7, OMIM:610021; Monocarboxylate transporter 1 deficiency, OMIM:616095
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Publications for SLC16A1 were set to 26608392; 17701893
Publications for SLC16A1 were set to 26608392
Mode of inheritance for SLC16A1 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mode of inheritance for SLC16A1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mode of inheritance for SLC16A1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mode of inheritance for SLC16A1 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Amber List (Moderate Evidence).
SLC16A1 was added to Ketotic hypoglycaemiapanel. Sources: Expert Review
SLC16A1 was created by ellenmcdonagh