Congenital hyperinsulinism
Gene: SLC16A1After consultation with Helen Brittain (Genomics England Clinical Fellow) hyperinsulinism is not part of the presenting phenotype in the biallelic cases, therefore the correct mode of inheritance for this panel is monoallelic.Created: 7 Jun 2022, 9:46 a.m. | Last Modified: 7 Jun 2022, 9:46 a.m.
Panel Version: 2.10
Comment on phenotypes: The phenotypes erythrocyte lactate transporter defect, OMIM:245340 and monocarboxylate transporter 1 deficiency, OMIM:616095 are also associated with SLC16A1 variants, however, these conditions are not relevant to this panel as they do not result in hyperinsulinism.Created: 7 Jun 2022, 9:39 a.m. | Last Modified: 7 Jun 2022, 9:39 a.m.
Panel Version: 2.10
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Hyperinsulinemic hypoglycemia, familial, 7, OMIM:610021
Initial gene list and info collated by Sian Ellard, University of Exeter Medical School, August 2018 on behalf of the GMS Endocrinology specialist test group. Gene Symbol submitted: SLC16A1; Suggested intial gene rating: Green; Evidence for inclusion: none given; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given; Phenotypes: Autosomal dominant exercise-induced hyperinsulinism.Created: 11 Jan 2019, 2:24 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Variants in this GENE are reported as part of current diagnostic practice
Comment on mode of pathogenicity: Some evidence loss of function may not be relevant for this phenotype.Created: 12 Apr 2016, 8:10 a.m.
Comment on list classification: Current diagnostic.Created: 12 Apr 2016, 8:09 a.m.
Phenotypes for gene: SLC16A1 were changed from Erythrocyte lactate transporter defect, OMIM:245340; Hyperinsulinemic hypoglycemia, familial, 7, OMIM:610021; Monocarboxylate transporter 1 deficiency, OMIM:616095 to Hyperinsulinemic hypoglycemia, familial, 7, OMIM:610021
Phenotypes for gene: SLC16A1 were changed from Hyperinsulinism, Dominant; Erythrocyte lactate transporter defect, 245340; Autosomal dominant exercise-induced hyperinsulinism to Erythrocyte lactate transporter defect, OMIM:245340; Hyperinsulinemic hypoglycemia, familial, 7, OMIM:610021; Monocarboxylate transporter 1 deficiency, OMIM:616095
Phenotypes for gene: SLC16A1 were changed from Hyperinsulinism, Dominant; Erythrocyte lactate transporter defect, 245340 to Hyperinsulinism, Dominant; Erythrocyte lactate transporter defect, 245340; Autosomal dominant exercise-induced hyperinsulinism
Source NHS GMS was added to SLC16A1. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
Mode of pathogenicity for SLC16A1 was changed to Other - please provide details in the comments
This gene has been classified as Green List (High Evidence).
Publications for SLC16A1 were set to 12502513
SLC16A1 was added to Hyperinsulinismpanel. Sources: Radboud University Medical Center, Nijmegen
SLC16A1 was added to Hyperinsulinismpanel. Sources: Illumina TruGenome Clinical Sequencing Services