1. Panels
  2. Hyperinsulinism
  3. SLC16A1
STRs in panel
Prev Next
Regions in panel
Prev Next

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 7 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Established association with hyperinsulininaemic hypoglycaemia and also with monocarboxylate transporter deficiency. Erythrocyte lactate transporter defect is a milder disorder which may only manifest with exercise.
Created: 11 May 2022, 8:05 a.m. | Last Modified: 11 May 2022, 8:05 a.m.
Panel Version: 0.14102

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Erythrocyte lactate transporter defect, MIM# 245340; Hyperinsulinemic hypoglycaemia, familial, 7, MIM# 610021; Monocarboxylate transporter 1 deficiency, MIM# 616095

Publications

Created: 11 May 2022, 8:05 a.m.
Last Modified: 11 May 2022, 8:05 a.m.
Panel version: Imported from Mendeliome panel version 0.14102

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • Erythrocyte lactate transporter defect, MIM# 245340
  • Hyperinsulinemic hypoglycaemia, familial, 7, MIM# 610021
  • Monocarboxylate transporter 1 deficiency, MIM# 616095
OMIM
600682
Clinvar variants
Variants in SLC16A1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Sep 2022, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: slc16a1 has been classified as Green List (High Evidence).

12 Sep 2022, Gel status: 3

Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

Phenotypes for gene: SLC16A1 were changed from to Erythrocyte lactate transporter defect, MIM# 245340; Hyperinsulinemic hypoglycaemia, familial, 7, MIM# 610021; Monocarboxylate transporter 1 deficiency, MIM# 616095

12 Sep 2022, Gel status: 3

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: SLC16A1 were set to

12 Sep 2022, Gel status: 3

Set mode of inheritance

Bryony Thompson (Royal Melbourne Hospital)

Mode of inheritance for gene: SLC16A1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SLC16A1 was added gene: SLC16A1 was added to Hyperinsulinism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SLC16A1 was set to Unknown