Ketotic hypoglycaemia

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 6 panels

1 review

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
  • mainly ketosis with borderline reduction in glucose
  • Hyperinsulinemic hypoglycemia, familial, 7
OMIM
600682
Clinvar variants
Variants in SLC16A1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

8 Jun 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

8 Jun 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

8 Jun 2016, Gel status: 2

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for SLC16A1 were set to 26608392; 17701893

8 Jun 2016, Gel status: 2

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for SLC16A1 were set to 26608392

8 Jun 2016, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

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

8 Jun 2016, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for SLC16A1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

8 Jun 2016, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for SLC16A1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

27 Apr 2016, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for SLC16A1 was changed to BIALLELIC, autosomal or pseudoautosomal

27 Apr 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

27 Apr 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

SLC16A1 was added to Ketotic hypoglycaemiapanel. Sources: Expert Review

27 Apr 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

SLC16A1 was created by ellenmcdonagh