SLC16A1

solute carrier family 16 member 1
OMIM: 600682, Gene2Phenotype

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Green SLC16A1 in Ketotic hypoglycaemia Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.9	review	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
Green SLC16A1 in Congenital hyperinsulinism Level 3: Disorders of unusual phenotypes Level 2: Endocrine disorders Version 3.4 Latest signed off version: v3.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Expert Review Green Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Phenotypes Hyperinsulinemic hypoglycemia, familial, 7, OMIM:610021
Green SLC16A1 in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.617	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Erythrocyte lactate transporter defect, OMIM:245340 Hyperinsulinemic hypoglycemia, familial, 7, OMIM:610021 Monocarboxylate transporter 1 deficiency, OMIM:616095
Green SLC16A1 in Likely inborn error of metabolism - targeted testing not possible Version 4.137 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Erythrocyte lactate transporter defect, OMIM:245340 Hyperinsulinemic hypoglycemia, familial, 7, OMIM:610021 Monocarboxylate transporter 1 deficiency, OMIM:616095
Red SLC16A1 in Childhood onset dystonia, chorea or related movement disorder Version 3.75 Latest signed off version: v3.0 (22 Mar 2023)	review	Not set	Sources Expert Review Red London North GLH
Green SLC16A1 in Severe Paediatric Disorders Version 1.184	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Erythrocyte lactate transporter defect, 245340 Hyperinsulinemic hypoglycemia, familial, 7, 610021 Monocarboxylate transporter 1 deficiency, 616095