Congenital hyperinsulinism

Gene: SLC16A1

Green List (high evidence)

SLC16A1 (solute carrier family 16 member 1)
EnsemblGeneIds (GRCh38): ENSG00000155380
EnsemblGeneIds (GRCh37): ENSG00000155380
OMIM: 600682, Gene2Phenotype
SLC16A1 is in 4 panels

3 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

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.

Sian Ellard (University of Exeter Medical School)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Variants in this GENE are reported as part of current diagnostic practice

Ellen Thomas (Genomics England Curator)

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.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Hyperinsulinism, Dominant
  • Erythrocyte lactate transporter defect, 245340
  • Autosomal dominant exercise-induced hyperinsulinism
OMIM
600682
Clinvar variants
Variants in SLC16A1
Penetrance
Complete
Publications
Mode of Pathogenicity
Other - please provide details in the comments
Panels with this gene

History Filter Activity

15 Jul 2019, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

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

11 Jan 2019, Gel status: 3

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to SLC16A1. Rating Changed from Green List (high evidence) to Green List (high evidence)

12 Apr 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

12 Apr 2016, Gel status: 4

Set mode of pathogenicity

Ellen Thomas (Genomics England Curator)

Mode of pathogenicity for SLC16A1 was changed to Other - please provide details in the comments

12 Apr 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

12 Apr 2016, Gel status: 2

Set publications

Ellen Thomas (Genomics England Curator)

Publications for SLC16A1 were set to 12502513

28 Apr 2015, Gel status: 2

Added New Source

GEL ()

SLC16A1 was added to Hyperinsulinismpanel. Sources: Radboud University Medical Center, Nijmegen

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

SLC16A1 was added to Hyperinsulinismpanel. Sources: Illumina TruGenome Clinical Sequencing Services