Ketotic hypoglycaemia
Gene: SLC16A1EnsemblGeneIds (GRCh38): ENSG00000155380
EnsemblGeneIds (GRCh37): ENSG00000155380
OMIM: 600682, Gene2Phenotype
SLC16A1 is in 5 panels
2 reviews
Sarah Leigh (Genomics England Curator)
Comment 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
Ellen McDonagh (Genomics England Curator)
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.
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert Review
- Phenotypes
-
- Erythrocyte lactate transporter defect, OMIM:245340
- Hyperinsulinemic hypoglycemia, familial, 7, OMIM:610021
- Monocarboxylate transporter 1 deficiency, OMIM:616095
- OMIM
- 600682
- Clinvar variants
- Variants in SLC16A1
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Sarah Leigh (Genomics England Curator)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
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Ellen McDonagh (Genomics England Curator)Publications for SLC16A1 were set to 26608392; 17701893
Set publications
Ellen McDonagh (Genomics England Curator)Publications for SLC16A1 were set to 26608392
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for SLC16A1 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for SLC16A1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for SLC16A1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for SLC16A1 was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)SLC16A1 was added to Ketotic hypoglycaemiapanel. Sources: Expert Review
Created
Ellen McDonagh (Genomics England Curator)SLC16A1 was created by ellenmcdonagh