SLC16A1

solute carrier family 16 member 1
OMIM: 600682, ClinGen, DECIPHER

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Green SLC16A1 in Hyperinsulinism Level 2: Endocrine disorders Version 2.0	1 review	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
Green SLC16A1 in Mendeliome Version 2.0	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Erythrocyte lactate transporter defect, MIM# 245340 Hyperinsulinemic hypoglycaemia, familial, 7, MIM# 610021 Monocarboxylate transporter 1 deficiency, MIM# 616095
Green SLC16A1 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Monocarboxylate transporter 1 deficiency, 616095 (3)
Red SLC16A1 in Additional findings_Paediatric Level 2: Screening Version 1.0	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red BabySeq Category C gene Phenotypes Monocarboxylate transporter 1 deficiency
Green SLC16A1 in Miscellaneous Metabolic Disorders Level 2: Metabolic disorders Version 2.0	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Monocarboxylate transporter 1 deficiency, MIM# 616095
Green SLC16A1 in Prepair 1000+ Level 2: Screening Version 3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Monocarboxylate transporter 1 deficiency, MIM#616095
Amber SLC16A1 in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 2.0	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber BabySeq Category C gene BeginNGS Phenotypes Hyperinsulinemic hypoglycemia, familial, 7, MIM# 610021 Monocarboxylate transporter 1 deficiency Tags metabolic for review