Genes in panel
STRs in panel
Prev Next

Inborn errors of metabolism

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 5 panels

0 reviews

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Hyperinsulinemic hypoglycemia, familial, 7
  • mainly ketosis with borderline reduction in glucose
OMIM
600682
Clinvar variants
Variants in SLC16A1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Ellen McDonagh: Comment on mode of pathogenici

16 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: SLC16A1 was added gene: SLC16A1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SLC16A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: SLC16A1 were set to 26608392; 17701893 Phenotypes for gene: SLC16A1 were set to Hyperinsulinemic hypoglycemia, familial, 7; mainly ketosis with borderline reduction in glucose